DHX30-Related Neurodevelopmental Disorder (NEDMIAL): Disease-Characteristics Report

Scope and evidence quality

DHX30-related neurodevelopmental disorder is ultra-rare, and its evidence base consists chiefly of the original 12-person discovery series, a 25-person genotype–phenotype/functional study, and subsequent case reports. Consequently, reported percentages are descriptive rather than population estimates and are vulnerable to ascertainment bias. The strongest disease-specific mechanistic evidence comes from human variants tested biochemically, in cultured cells, and in zebrafish. Mitochondrial mechanisms demonstrated in cancer-cell systems are biologically relevant but have not been directly established in patient-derived neural cells.

Table: Knowledge-base-ready summary of identifiers, severe-subtype phenotype frequencies, inheritance, molecular mechanisms, diagnosis, models, treatment status, and major evidence gaps. Frequencies primarily describe 19 individuals with helicase-core-motif missense variants and should not be generalized to all DHX30 variant classes.

1. Disease information

Definition. DHX30-related neurodevelopmental disorder is a predominantly early-onset, monogenic neurological disorder characterized by global developmental delay/intellectual disability, profound expressive-language impairment, hypotonia, severe motor delay, and abnormal or absent independent gait. The classic severe phenotype is associated particularly with heterozygous missense variants in conserved helicase-core motifs (HCMs). Broader ascertainment has identified milder loss-of-function and mosaic presentations and a rare later-onset progressive-ataxia phenotype. (mannucci2021genotype–phenotypecorrelationsand pages 1-2, mannucci2021theroleof pages 74-76)

Identifiers and names. The best-supported identifier is OMIM 617804. Names include neurodevelopmental disorder with severe motor impairment and absent language, NEDMIAL, DHX30-associated neurodevelopmental disorder, and, reflecting the expanded spectrum, neurodevelopmental disorder with variable motor and language impairment. (lederbauer2024theroleof pages 6-7)

A disease-specific Orphanet, ICD-10, ICD-11, MeSH, or MONDO identifier was not verified in the retrieved authoritative literature. Coding in clinical systems therefore generally falls under nonspecific developmental/intellectual-disability, speech, motor, epilepsy, or genetic-disorder categories. A MONDO identifier should not be assigned without direct registry confirmation.

The summarized information is aggregated disease-level literature, supplemented by individually described patients; it is not derived from an EHR population. The 2023 Korean review identified 40 unrelated individuals plus four affected siblings in the literature at that time. (park2023dhx30associatedneurodevelopmentaldisorder pages 3-5)

2. Etiology, risk, and protective factors

The primary cause is a pathogenic germline variant affecting DHX30, usually a heterozygous de novo variant. Severe disease is strongly associated with missense substitutions in conserved HCMs, whereas nonsense, frameshift, deletion, or other haploinsufficient alleles generally produce milder disease. Mosaicism can attenuate severity. (mannucci2021genotype–phenotypecorrelationsand pages 1-2)

No environmental, infectious, toxic, occupational, dietary, lifestyle, or sex-specific causal risk factor has been established. Family history is usually negative because variants arise de novo, but parental gonadal or somatic-gonadal mosaicism creates recurrence risk. Two affected Korean siblings carried c.2344C>T, p.Arg782Trp despite negative parental testing, consistent with parental germline mosaicism; transmission of a truncating allele from a mosaic mother has also been documented. (park2023dhx30associatedneurodevelopmentaldisorder pages 3-5, mannucci2021theroleof pages 74-76)

No validated protective allele, modifier gene, environmental protective factor, or NEDMIAL-specific gene–environment interaction is known. Manganese/DHX30 experiments concern acute metal toxicity in other models and do not establish manganese as a cause or modifier of NEDMIAL.

3. Phenotypes

Core severe HCM-missense phenotype

In the best-defined group of 19 HCM-missense carriers, 19/19 had global developmental delay, intellectual disability, severe speech impairment, and gait abnormalities. Reported frequencies included hypotonia in 95%, feeding difficulty in 84%, microcephaly in 81%, nonverbal status in 74%, joint hypermobility in 74%, and acquisition of walking in only 47%. (alomaim2023anovelde pages 6-7, mannucci2021genotype–phenotypecorrelationsand pages 1-2)

Suggested annotations are:

• Global developmental delay — HP:0001263; intellectual disability — HP:0001249.
• Absent speech — HP:0001344; severe expressive-language impairment.
• Motor delay — HP:0001270; gait disturbance — HP:0001288; ataxia — HP:0001251.
• Hypotonia — HP:0001252.
• Feeding difficulties — HP:0011968.
• Microcephaly — HP:0000252; poor growth/failure to thrive — HP:0001508.
• Joint hypermobility — HP:0001382; joint dislocation — HP:0001373.

Onset is congenital/infantile and generally recognized through delayed milestones, hypotonia, feeding problems, or poor head growth. Severity is usually profound in HCM-missense disease, but developmental gains can occur slowly. One child rolled at nine months, stood with support at two years, used a walker at approximately 5.5 years, and remained nonverbal. (mannucci2021theroleof pages 55-65, mannucci2021theroleofa pages 55-65)

Variable manifestations

Seizures, epileptiform EEG activity without clinical seizures, autism-like social-communication deficits, stereotypies, sleep disturbance, strabismus, nystagmus, drooling, contractures, foot deformity, and cryptorchidism occur variably. In an early 14-person comparison, seizures occurred in 3/14, feeding difficulties in 11/14, nystagmus in 6/14, joint hypermobility in 6/14, and MRI abnormalities in 10/14; all 14 had ID, motor delay, and hypotonia. (alomaim2023anovelde pages 7-9)

Suggested terms include seizure (HP:0001250), autistic behavior (HP:0000729), sleep disturbance (HP:0002360), strabismus (HP:0000486), and nystagmus (HP:0000639).

Brain MRI may be normal or show ventriculomegaly, delayed/hypomyelination, reduced white-matter volume, cerebral or cerebellar atrophy, enlarged extra-axial spaces, or corpus-callosum abnormalities. These findings are heterogeneous and are neither necessary nor diagnostic. (park2023dhx30associatedneurodevelopmentaldisorder pages 3-5, park2023dhx30associatedneurodevelopmentaldisorder pages 6-7)

Quality of life. No validated EQ-5D, SF-36, PROMIS, or disease-specific study was found. Nevertheless, inability to communicate verbally, limited mobility, feeding problems, diaper dependence, seizures, and need for complete assistance indicate major effects on autonomy, participation, education, and caregiver burden. A 12-year-old reported in 2023 required complete assistance with feeding, dressing, toileting, and other daily activities. (alomaim2023anovelde pages 5-6)

4. Genetic and molecular information

Gene. The causal gene is DHX30, encoding an ATP-dependent DExH-box/SF2 RNA helicase. HGNC and NCBI Gene identifiers should be imported directly from those registries rather than inferred from the clinical papers.

Variant spectrum. Recurrent severe HCM substitutions include p.Arg493His, p.His562Arg, p.Ser698Phe, p.Gly781Asp, p.Arg782Trp, p.Arg785Cys, and p.Arg785His. Additional functionally examined substitutions include p.Gly462Glu, p.Ala734Asp, p.Ser737Phe, p.Thr739Ala, p.Arg782Gln, p.Arg725His, and p.Arg908Gln. Reported non-missense alleles include p.Ala116Valfs12, p.Arg797, and a deletion encompassing DHX30. (alomaim2023anovelde pages 7-9, mannucci2021genotype–phenotypecorrelationsandb pages 16-17)

A 2023 Middle Eastern case carried de novo c.2387C>T, p.Pro796Leu; the authors proposed upgrading it from VUS to likely pathogenic based on phenotype and de novo occurrence. This remains case-level evidence rather than a universally resolved classification. (alomaim2023anovelde pages 6-7)

Variants are constitutional/germline, not tumor-somatic lesions, although postzygotic mosaicism occurs. Causal alleles are generally absent or extremely rare in population databases; exact gnomAD/TOPMed frequencies must be checked by transcript and genome build for each allele. The literature supports strong intolerance of DHX30 to variation. (lederbauer2024theroleof pages 6-7)

Allelic mechanism. HCM missense variants combine loss of normal ATPase/RNA-unwinding activity with abnormal promotion of stress-granule assembly—a detrimental gain of function, with possible dominant-negative effects for some alleles. By contrast, haploinsufficiency/truncation generally causes less severe disease. Wild-type DHX30 partly rescued selected mutant zebrafish phenotypes and RNA-unwinding defects, supporting an allele-dependent mixture of loss-of-function and dominant interference. (mannucci2021genotype–phenotypecorrelationsand pages 1-2, mannucci2021genotype–phenotypecorrelationsandb pages 11-13)

No replicated modifier gene or NEDMIAL-specific epigenetic signature is known. Large deletions can include neighboring 3p21.31 genes, making attribution of all features to DHX30 alone uncertain. (mannucci2021theroleof pages 74-76)

5. Environmental information

NEDMIAL is not known to be caused by toxins, radiation, pollution, occupational exposure, smoking, diet, alcohol, exercise patterns, or an infectious agent. No lifestyle intervention has been shown to alter penetrance. These fields are currently not applicable as established causes, rather than proven never to influence severity.

6. Mechanism and pathophysiology

Ordered causal chain

1. A pathogenic DHX30 HCM missense variant leads to altered helicase-core structure and reduced RNA-stimulated ATPase/RNA-unwinding activity.
2. Impaired catalytic activity plus mutant-specific protein behavior results in abnormal cytoplasmic aggregation and constitutive/excess stress-granule assembly.
3. Abnormal sequestration of RNA–protein complexes leads to reduced or distorted global translation.
4. Translation dysregulation during embryonic and neural development is inferred to lead to impaired neuronal differentiation, circuit formation, and motor/language-network development; this neural-cell step has not yet been directly demonstrated in patient-derived neurons.
5. Disrupted neurodevelopment results in global developmental delay, intellectual disability, hypotonia, absent/minimal speech, and severe gait impairment.
6. Parallel branch: mitochondrial DHX30 dysfunction may lead to defective mitoribosome-related translation and reduced oxidative metabolism; its contribution to NEDMIAL is plausible but remains inferred from non-neural cell models.
7. Loss-of-function branch: truncation/deletion leads to reduced DHX30 dosage without the same stress-granule gain of function and therefore generally results in a milder motor/language phenotype. (mannucci2021genotype–phenotypecorrelationsand pages 1-2, mannucci2021genotype–phenotypecorrelationsandb pages 11-13, bosco2021dhx30coordinatescytoplasmic pages 20-22)

The central disease-specific experimental result is captured in the Mannucci et al. abstract: “These variants impair the ATPase and helicase activity of DHX30, trigger SG formation, interfere with global translation, and cause developmental defects in a zebrafish model.” The same study concluded that HCM variants cause detrimental stress-granule gain of function, whereas loss-of-function variants are milder. (mannucci2021genotype–phenotypecorrelationsand pages 1-2)

DHX30 has cytoplasmic and more abundant mitochondrially targeted forms generated through alternative transcription initiation. It associates with ribosomes and mitoribosomal transcripts. In HCT116 and other cancer cells, DHX30 depletion increased cytoplasmic ribosome biogenesis/global translation while reducing translation of nuclear-encoded mitoribosomal transcripts and mitochondrial energy metabolism. These results establish general DHX30 biology, not a demonstrated NEDMIAL biomarker. (bosco2020thernahelicase pages 9-12, bosco2020thernahelicase pages 4-7)

Suggested GO annotations include RNA binding (GO:0003723), ATP-dependent RNA-helicase activity, translation (GO:0006412), cytoplasmic stress granule (GO:0010494), mitochondrion (GO:0005739), mitochondrial ribosome (GO:0005761), and mitochondrial translation (GO:0032543). Broad candidate cell types are neural progenitor cell, neuron, cerebellar neuron/Purkinje cell, and skeletal myocyte, but no NEDMIAL single-cell or spatial study has established a primary cell type.

No disease-specific metabolomic, lipidomic, proteomic, single-cell, spatial-transcriptomic, multi-omic, CRISPR-screen, or patient-neural-organoid signature was identified. There is likewise no evidence that inflammation, autoimmunity, fibrosis, ischemia, or infection is a primary mechanism.

7. Anatomical structures affected

The nervous system is primary, especially the developing brain and networks governing cognition, language, tone, coordination, sleep, and social behavior. MRI implicates cerebral white matter, cerebral cortex, cerebellum, ventricles, and corpus callosum variably and usually bilaterally; no consistent lateralization exists. Suggested terms include UBERON:0000955 brain, UBERON:0002037 cerebellum, UBERON:0002316 white matter, and UBERON:0002336 corpus callosum. (park2023dhx30associatedneurodevelopmentaldisorder pages 3-5)

Secondary functional involvement includes skeletal muscle/tone, joints and connective tissue, ocular-motor structures, and the gastrointestinal/oropharyngeal feeding apparatus. The underlying lesion is primarily neurodevelopmental rather than a proven primary myopathy or connective-tissue disorder. Relevant subcellular compartments are cytoplasm, stress granules, mitochondria, mitochondrial RNA granules, and ribosomes. (alomaim2023anovelde pages 6-7, falk2023functionalcharacterisationof pages 16-20)

8. Temporal development

Classic disease begins in infancy and is chronic/lifelong. Development is delayed rather than characterized by acute attacks or remission. Some patients make slow gains in sitting, assisted standing, walking, or communication, but severe language and adaptive disability generally persist. No formal staging system exists. (mannucci2021theroleof pages 55-65)

The broader allelic spectrum includes exceptions: p.Arg908Gln was associated with later progressive cerebellar atrophy and ataxia, while homozygous p.Arg725His was reported with early-lethal infantile epileptic encephalopathy. These should not be generalized to classic heterozygous NEDMIAL. (mannucci2021theroleof pages 74-76, mannucci2021genotype–phenotypecorrelationsandb pages 16-17)

No spontaneous or treatment-induced remission pattern is documented. Prenatal and early-childhood brain development is the likely biological critical period, but no disease-modifying intervention window has been validated.

9. Inheritance and population

Inheritance is principally autosomal dominant, usually de novo. Penetrance appears high for established pathogenic HCM variants, but it cannot be quantified from ascertainment-based cohorts. Expressivity is variant-dependent and variable, particularly across HCM missense, truncating, deletion, and mosaic alleles. Genetic anticipation and founder effects have not been reported. Consanguinity is not a usual factor, although one homozygous case suggests that rare biallelic disease may exist. (mannucci2021genotype–phenotypecorrelationsand pages 1-2, lederbauer2024theroleof pages 6-7)

Parental mosaicism is clinically important: recurrence can occur even when a variant is absent from routine parental blood testing. Deep sequencing of multiple tissues or sperm may refine risk but cannot exclude gonadal mosaicism completely. (park2023dhx30associatedneurodevelopmentaldisorder pages 3-5)

Population prevalence, incidence, carrier frequency, ancestry-specific enrichment, geographic variation, and sex ratio are unknown. Reports span multiple geographic and ancestral groups, supporting worldwide occurrence rather than a known endemic distribution. Published counts should not be converted into cases per 100,000.

10. Diagnostics

Diagnosis requires a compatible phenotype plus a pathogenic/likely pathogenic DHX30 variant. Trio whole-exome sequencing, whole-genome sequencing, or a comprehensive neurodevelopmental/intellectual-disability panel is preferred because the phenotype overlaps many disorders. The Korean siblings and the 2023 p.Pro796Leu case were diagnosed by WES. (park2023dhx30associatedneurodevelopmentaldisorder pages 3-5, alomaim2023anovelde pages 6-7)

Recommended workflow:

1. Detailed developmental, neurologic, growth, feeding, ophthalmologic, behavioral, and musculoskeletal assessment.
2. Trio ES/GS or an NDD panel including DHX30, with sequence and deletion/duplication analysis.
3. Confirmatory testing and parental segregation; consider high-depth mosaicism analysis when recurrence, an attenuated parent, or affected siblings are present.
4. Interpret variants by type and location; HCM missense variants merit functional/domain-aware assessment rather than applying a simple haploinsufficiency model.
5. Baseline brain MRI when neurologically indicated; EEG for seizures or suspicious episodes; feeding/swallow, vision, hearing, orthopedic, and developmental assessments according to symptoms.

CMA may detect a DHX30-containing deletion but is usually negative for single-nucleotide variants. Karyotyping, FISH, mitochondrial-DNA testing, repeat-expansion testing, biopsy, proteomics, metabolomics, and liquid biopsy are not first-line disease-specific tests. One extensively investigated patient had normal metabolic, respiratory-chain, muscle-biopsy, karyotype, and array results before molecular diagnosis. (mannucci2021theroleof pages 74-76)

MRI is supportive rather than diagnostic, and no blood, CSF, protein, metabolite, EEG, or imaging biomarker is validated. Differential diagnoses include Angelman syndrome, Rett syndrome, cerebral palsy, DDX3X-related disorder, HECW2-related disorder, Pitt–Hopkins syndrome, and other monogenic severe speech/motor NDDs. Early NEDMIAL may mimic Rett or Angelman syndrome. (alomaim2023anovelde pages 7-9)

Population newborn or carrier screening is unavailable. Cascade testing is useful only after identifying a familial variant; prenatal diagnosis and preimplantation genetic testing are technically possible for a known pathogenic familial allele.

11. Outcome and prognosis

No reliable survival curve, mortality rate, or life-expectancy estimate exists. Individuals have been reported into adulthood, but adult natural history is sparsely characterized. Most morbidity arises from lifelong cognitive/communication disability, impaired mobility, feeding dependence, hypotonia/orthopedic complications, sleep problems, and, in some patients, epilepsy. (alomaim2023anovelde pages 5-6, mannucci2021theroleof pages 74-76)

Recovery to typical function has not been documented for classic severe HCM disease, although incremental developmental progress is possible. Variant class is the clearest current prognostic factor: HCM missense variants generally predict severe disease; truncating/haploinsufficient or mosaic variants often predict a milder course. This correlation is useful but not deterministic. (mannucci2021genotype–phenotypecorrelationsand pages 1-2)

No validated prognostic biomarker or standardized quality-of-life outcome exists.

12. Treatment and current implementation

There is no approved disease-modifying pharmacotherapy, gene therapy, RNA therapy, cell therapy, or DHX30-targeted agent. A targeted ClinicalTrials.gov search found no relevant interventional DHX30/NEDMIAL trial. No response-rate or comparative adverse-event data are available.

Current real-world care is multidisciplinary and symptom-directed:

• Early physical and occupational therapy; mobility aids, orthotics, and orthopedic surveillance.
• Speech-language therapy with early augmentative and alternative communication rather than waiting for speech to emerge.
• Feeding/swallow evaluation, nutritional support, and enteral feeding when clinically required.
• Standard antiseizure treatment based on seizure type and EEG; avoid treatment of unconfirmed events solely on the syndrome label.
• Sleep hygiene and individualized treatment of sleep disturbance; melatonin has been used in an individual case, but efficacy is not established.
• Ophthalmologic care for strabismus/nystagmus and routine hearing assessment.
• Behavioral/developmental services, educational accommodations, and family psychosocial support.

A single patient reportedly had improved sleep and daily functioning while receiving valproate, but this uncontrolled observation is not evidence of a DHX30-specific effect. (mannucci2021theroleof pages 55-65)

Suggested NCIt concepts include Physical Therapy, Occupational Therapy, Speech Therapy, Augmentative and Alternative Communication, Enteral Nutrition, Anticonvulsant Therapy, Genetic Counseling, and Supportive Care. There is no established DHX30 pharmacogenomic guidance or genotype-guided drug algorithm.

13. Prevention

Because most cases result from de novo variants, lifestyle or environmental primary prevention is unavailable. Genetic counseling should explain that the recurrence risk is low but not zero after an apparently de novo result because parental gonadal mosaicism is documented. (park2023dhx30associatedneurodevelopmentaldisorder pages 3-5)

For a known familial pathogenic variant, reproductive options include targeted prenatal diagnosis and preimplantation genetic testing. Secondary prevention consists of early genomic diagnosis and prompt developmental, communication, feeding, seizure, visual, and orthopedic intervention. Tertiary prevention focuses on aspiration/malnutrition, contractures, falls, untreated epilepsy, sleep disruption, and loss of mobility. Vaccination, anti-infective prophylaxis, and environmental remediation have no disease-specific preventive role.

14. Other species and natural disease

No naturally occurring veterinary DHX30 syndrome, breed predisposition, zoonotic transmission, or cross-species infectious susceptibility was identified. NEDMIAL is not transmissible. Relevant experimental taxa include Danio rerio (NCBI Taxon 7955) and Mus musculus (NCBI Taxon 10090). Conservation from humans to zebrafish supports an evolutionarily conserved role in development and stress-granule biology. (mannucci2021genotype–phenotypecorrelationsand pages 1-2)

15. Model organisms

Zebrafish. Expression of human pathogenic HCM variants causes embryonic developmental abnormalities; wild-type DHX30 partially rescues selected defects. CRISPR dhx30-null fish are viable, fertile, and grossly normal but show compromised stress-granule formation, reduced daytime activity, increased nighttime activity/reduced sleep, and impaired social preference. This model reproduces cellular and behavioral components but not the full severe human motor/language phenotype. (mannucci2021genotype–phenotypecorrelationsandb pages 11-13, mannucci2021genotype–phenotypecorrelationsandb pages 16-17)

Mouse. Complete Dhx30 knockout causes early embryonic lethality, demonstrating essential developmental function but limiting face validity for viable heterozygous human NEDMIAL. Conditional or patient-variant knock-in neural models would be more informative but were not identified. (lederbauer2024theroleof pages 6-7)

Cellular models. HEK293T DHX30 knockout and variant-expression systems demonstrate altered stress-granule assembly, ATPase/helicase activity, RNA unwinding, and translation. HCT116, U2OS, MCF7, and K562-derived datasets establish cytoplasmic/mitochondrial translation functions but are cancer-cell models and cannot substitute for patient-derived neurons. (mannucci2021genotype–phenotypecorrelationsandb pages 11-13, bosco2021dhx30coordinatescytoplasmic pages 20-22, bosco2020thernahelicase pages 4-7)

Recent developments and authoritative interpretation

The major 2023 clinical developments were reports expanding geographic recognition to Korea and the Middle East and reinforcing WES-based diagnosis and parental mosaicism assessment. The Korean review found 40 unrelated cases and four affected siblings and documented c.2344C>T, p.Arg782Trp in two siblings. (park2023dhx30associatedneurodevelopmentaldisorder pages 3-5)

The 2024 Frontiers review retained OMIM 617804, emphasized the contrast between severe missense and milder loss-of-function disease, and noted strong DHX30 variation constraint and embryonic lethality of complete mouse knockout. No 2023–2024 disease-modifying trial or validated biomarker emerged. [Lederbauer et al., published August 2024, DOI: https://doi.org/10.3389/fnmol.2024.1414949]. (lederbauer2024theroleof pages 6-7)

The leading expert interpretation remains that NEDMIAL is an allelic/mechanistic spectrum, not a uniform haploinsufficiency disorder. Mannucci et al. summarized the key distinction directly: “DHX30 loss-of-function variants cause a milder phenotype whereas a severe phenotype is caused by HCM missense variants” with additional detrimental stress-granule gain of function. [Genome Medicine 13:90, published May 2021, DOI: https://doi.org/10.1186/s13073-021-00900-3]. (mannucci2021genotype–phenotypecorrelationsand pages 1-2)

Key references and evidence types

1. Lessel et al. “De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.” American Journal of Human Genetics, January 2018. DOI: https://doi.org/10.1016/j.ajhg.2017.12.016. Landmark human discovery plus in-vitro functional study. The retrieved record did not expose a PMID.
2. Mannucci et al. “Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.” Genome Medicine 13:90, May 2021. DOI: https://doi.org/10.1186/s13073-021-00900-3. Human multicenter cohort, biochemistry, cultured cells, and zebrafish. (mannucci2021genotype–phenotypecorrelationsand pages 1-2)
3. Ueda et al. “A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30.” Human Genome Variation 8, June 2021. DOI: https://doi.org/10.1038/s41439-021-00155-9. Human case series.
4. Alomaim and Mushiba. Cureus 15:e33682, January 2023. DOI: https://doi.org/10.7759/cureus.33682. Human case report and literature comparison. (alomaim2023anovelde pages 6-7, alomaim2023anovelde pages 7-9)
5. Park et al. “First Korean case in two siblings and literature review.” Annals of Clinical & Laboratory Science 53:328–329, 2023. Human sibling report demonstrating probable gonadal mosaicism. (park2023dhx30associatedneurodevelopmentaldisorder pages 3-5)
6. Lederbauer et al. “The role of DEAD- and DExH-box RNA helicases in neurodevelopmental disorders.” Frontiers in Molecular Neuroscience 17, August 2024. DOI: https://doi.org/10.3389/fnmol.2024.1414949. Authoritative recent review. (lederbauer2024theroleof pages 6-7)
7. Bosco et al. “DHX30 Coordinates Cytoplasmic Translation and Mitochondrial Function Contributing to Cancer Cell Survival.” Cancers 13:4412, August 2021. DOI: https://doi.org/10.3390/cancers13174412. In-vitro translation/mitochondrial biology; indirect for NEDMIAL. (bosco2021dhx30coordinatescytoplasmic pages 20-22)

PMIDs were requested, but the retrieved full-text metadata did not reliably expose them. They are therefore not fabricated here; DOI URLs provide stable primary-source links.

References

1. (lederbauer2024theroleof pages 6-7): Johannes Lederbauer, Sarada Das, Amelie Piton, Davor Lessel, and Hans-Jürgen Kreienkamp. The role of dead- and dexh-box rna helicases in neurodevelopmental disorders. Frontiers in Molecular Neuroscience, Aug 2024. URL: https://doi.org/10.3389/fnmol.2024.1414949, doi:10.3389/fnmol.2024.1414949. This article has 4 citations.

2. (mannucci2021genotype–phenotypecorrelationsand pages 1-2): Ilaria Mannucci, Nghi D. P. Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff, Siddharth Banka, Gareth Baynam, David Bearden, Ana Beleza-Meireles, Paul J. Benke, Siren Berland, Tatjana Bierhals, Frederic Bilan, Laurence A. Bindoff, Geir Julius Braathen, Øyvind L. Busk, Jirat Chenbhanich, Jonas Denecke, Luis F. Escobar, Caroline Estes, Julie Fleischer, Daniel Groepper, Charlotte A. Haaxma, Maja Hempel, Yolanda Holler-Managan, Gunnar Houge, Adam Jackson, Laura Kellogg, Boris Keren, Catherine Kiraly-Borri, Cornelia Kraus, Christian Kubisch, Gwenael Le Guyader, Ulf W. Ljungblad, Leslie Manace Brenman, Julian A. Martinez-Agosto, Matthew Might, David T. Miller, Kelly Q. Minks, Billur Moghaddam, Caroline Nava, Stanley F. Nelson, John M. Parant, Trine Prescott, Farrah Rajabi, Hanitra Randrianaivo, Simone F. Reiter, Janneke Schuurs-Hoeijmakers, Perry B. Shieh, Anne Slavotinek, Sarah Smithson, Alexander P. A. Stegmann, Kinga Tomczak, Kristian Tveten, Jun Wang, Jordan H. Whitlock, Christiane Zweier, Kirsty McWalter, Jane Juusola, Fabiola Quintero-Rivera, Utz Fischer, Nan Cher Yeo, Hans-Jürgen Kreienkamp, and Davor Lessel. Genotype–phenotype correlations and novel molecular insights into the dhx30-associated neurodevelopmental disorders. Genome Medicine, May 2021. URL: https://doi.org/10.1186/s13073-021-00900-3, doi:10.1186/s13073-021-00900-3. This article has 37 citations and is from a highest quality peer-reviewed journal.

3. (alomaim2023anovelde pages 6-7): Mohammad M Alomaim and Aziza M Mushiba. A novel de novo mutation of the dhx30 gene in a patient with neurodevelopmental disorder, severe motor impairment, and absent language (nedmial). Jan 2023. URL: https://doi.org/10.7759/cureus.33682, doi:10.7759/cureus.33682. This article has 5 citations.

4. (alomaim2023anovelde pages 5-6): Mohammad M Alomaim and Aziza M Mushiba. A novel de novo mutation of the dhx30 gene in a patient with neurodevelopmental disorder, severe motor impairment, and absent language (nedmial). Jan 2023. URL: https://doi.org/10.7759/cureus.33682, doi:10.7759/cureus.33682. This article has 5 citations.

5. (mannucci2021theroleof pages 55-65): I Mannucci. The role of rna binding proteins in neurodevelopmental disorders. Unknown journal, 2021.

6. (alomaim2023anovelde pages 7-9): Mohammad M Alomaim and Aziza M Mushiba. A novel de novo mutation of the dhx30 gene in a patient with neurodevelopmental disorder, severe motor impairment, and absent language (nedmial). Jan 2023. URL: https://doi.org/10.7759/cureus.33682, doi:10.7759/cureus.33682. This article has 5 citations.

7. (park2023dhx30associatedneurodevelopmentaldisorder pages 3-5): EG Park, GH Seo, and A Yang. Dhx30-associated neurodevelopmental disorder with severe motor impairment and absent language: first korean case in two siblings and literature review. Unknown journal, 2023.

8. (park2023dhx30associatedneurodevelopmentaldisorder pages 6-7): EG Park, GH Seo, and A Yang. Dhx30-associated neurodevelopmental disorder with severe motor impairment and absent language: first korean case in two siblings and literature review. Unknown journal, 2023.

9. (mannucci2021theroleof pages 74-76): I Mannucci. The role of rna binding proteins in neurodevelopmental disorders. Unknown journal, 2021.

10. (mannucci2021genotype–phenotypecorrelationsandb pages 11-13): I Mannucci, NDP Dang, and H Huber. Genotype–phenotype correlations and novel molecular insights into the dhx30. Unknown journal, 2021.

11. (bosco2021dhx30coordinatescytoplasmic pages 20-22): Bartolomeo Bosco, Annalisa Rossi, Dario Rizzotto, Meriem Hadjer Hamadou, Alessandra Bisio, Sebastiano Giorgetta, Alicia Perzolli, Francesco Bonollo, Angeline Gaucherot, Frédéric Catez, Jean-Jacques Diaz, Erik Dassi, and Alberto Inga. Dhx30 coordinates cytoplasmic translation and mitochondrial function contributing to cancer cell survival. Cancers, 13:4412, Aug 2021. URL: https://doi.org/10.3390/cancers13174412, doi:10.3390/cancers13174412. This article has 27 citations.

12. (bosco2020thernahelicase pages 4-7): Bartolomeo Bosco, Annalisa Rossi, Dario Rizzotto, Sebastiano Giorgetta, Alicia Perzolli, Francesco Bonollo, Angeline Gaucherot, Frédéric Catez, Jean-Jacques Diaz, Erik Dassi, and Alberto Inga. The rna helicase dhx30 coordinates cytoplasmic translation and mitochondrial function contributing to cancer cell survival. bioRxiv, Jul 2020. URL: https://doi.org/10.1101/2020.07.13.196709, doi:10.1101/2020.07.13.196709. This article has 0 citations.

13. (mannucci2021theroleofa pages 55-65): I Mannucci. The role of rna binding proteins in neurodevelopmental disorders. Unknown journal, 2021.

14. (mannucci2021genotype–phenotypecorrelationsandb pages 16-17): I Mannucci, NDP Dang, and H Huber. Genotype–phenotype correlations and novel molecular insights into the dhx30. Unknown journal, 2021.

15. (bosco2020thernahelicase pages 9-12): Bartolomeo Bosco, Annalisa Rossi, Dario Rizzotto, Sebastiano Giorgetta, Alicia Perzolli, Francesco Bonollo, Angeline Gaucherot, Frédéric Catez, Jean-Jacques Diaz, Erik Dassi, and Alberto Inga. The rna helicase dhx30 coordinates cytoplasmic translation and mitochondrial function contributing to cancer cell survival. bioRxiv, Jul 2020. URL: https://doi.org/10.1101/2020.07.13.196709, doi:10.1101/2020.07.13.196709. This article has 0 citations.

16. (falk2023functionalcharacterisationof pages 16-20): Rebecca Rossen Falk. Functional characterisation of dhx proteins in the regulation of rna metabolism and genome stability. ArXiv, 2023. URL: https://doi.org/10.53846/goediss-10037, doi:10.53846/goediss-10037. This article has 1 citations.

Artifacts

• Edison artifact artifact-00

Reference Validation

Checked with linkml-reference-validator 0.2.1.

All extracted references resolved successfully.

Term Validation

Checked with linkml-term-validator 0.4.5, through the ols: adapter.

Prefixes with no resolver

Terms carrying these prefixes were not checked either way, because no configured ontology covers them. An unrecognised prefix may name an ontology this run could not reach as easily as one that does not exist, so nothing here is evidence of fabrication: OMIM, Taxon.

35 of 38 terms resolved to a current term; the rest could not be looked up either way.