Alsahan-Harris syndrome is a rare autosomal recessive ciliopathy caused by biallelic variants in TBC1D32 (also known historically as BROMI or C6orf170). TBC1D32/BROMI is a ciliary protein that, together with CCRK/CDK20 and ICK/CILK1, regulates the intraflagellar transport (IFT) turnaround at the ciliary tip and is required for proper cilium-dependent Hedgehog signaling. Loss of TBC1D32 function disrupts ciliary protein trafficking and Hedgehog signal transduction, producing a complex, phenotypically variable multisystem ciliopathy. Reported features span an oral-facial-digital syndrome spectrum (designated OFD-IX) with polydactyly and craniofacial anomalies, hypothalamic-pituitary involvement (congenital hypopituitarism), inherited retinal degeneration (retinitis pigmentosa / rod-cone degeneration), sensorineural hearing loss, and, at the severe end, a prenatal phenotype with life-limiting congenital anomalies. The eponym honors the first human confirmation of the TBC1D32-related ciliopathy by Alsahan and Alkuraya (2020) and the phenotypic-spectrum expansion by Harris and colleagues (2023).
Ask a research question about Alsahan-Harris Syndrome. OpenScientist will conduct autonomous deep research using the Disorder Mechanisms Knowledge Base and PubMed literature (typically 10-30 minutes).
Do not include personal health information in your question. Questions and results are cached in your browser's local storage.
name: Alsahan-Harris Syndrome
creation_date: "2026-06-21T00:00:00Z"
category: Mendelian
description: >-
Alsahan-Harris syndrome is a rare autosomal recessive ciliopathy caused by
biallelic variants in TBC1D32 (also known historically as BROMI or C6orf170).
TBC1D32/BROMI is a ciliary protein that, together with CCRK/CDK20 and
ICK/CILK1, regulates the intraflagellar transport (IFT) turnaround at the
ciliary tip and is required for proper cilium-dependent Hedgehog signaling.
Loss of TBC1D32 function disrupts ciliary protein trafficking and Hedgehog
signal transduction, producing a complex, phenotypically variable
multisystem ciliopathy. Reported features span an oral-facial-digital
syndrome spectrum (designated OFD-IX) with polydactyly and craniofacial
anomalies, hypothalamic-pituitary involvement (congenital hypopituitarism),
inherited retinal degeneration (retinitis pigmentosa / rod-cone
degeneration), sensorineural hearing loss, and, at the severe end, a prenatal
phenotype with life-limiting congenital anomalies. The eponym honors the
first human confirmation of the TBC1D32-related ciliopathy by Alsahan and
Alkuraya (2020) and the phenotypic-spectrum expansion by Harris and
colleagues (2023).
disease_term:
preferred_term: Alsahan-Harris syndrome
term:
id: MONDO:0979871
label: Alsahan-Harris syndrome
parents:
- Ciliopathies
inheritance:
- name: Autosomal Recessive
description: >-
Alsahan-Harris syndrome is inherited in an autosomal recessive manner,
caused by biallelic (homozygous or compound heterozygous) pathogenic
variants in TBC1D32.
evidence:
- reference: PMID:36826837
reference_title: "Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
We describe seven unpublished probands with rare likely pathogenic
variants or variants of uncertain significance that segregate with
recessive disease in TBC1D32
explanation: >-
Establishes recessive segregation of TBC1D32 variants across multiple
pedigrees, supporting autosomal recessive inheritance.
mappings:
mondo_mappings:
- term:
id: MONDO:0979871
label: Alsahan-Harris syndrome
mapping_predicate: skos:exactMatch
mapping_source: MONDO
mapping_justification: >-
MONDO:0979871 (Alsahan-Harris syndrome) is the disease term for this
entry and carries an OMIM:621307 xref and a TBC1D32 (HGNC:21485)
gene association, matching the curated identity.
pathophysiology:
- name: TBC1D32/BROMI Ciliary Trafficking and IFT Turnaround Defect
conforms_to: "ciliopathy_dysfunction#Basal Body and Transition Zone Dysfunction"
description: >-
TBC1D32 (BROMI) is a ciliary protein required for the intraflagellar
transport (IFT) turnaround at the ciliary tip. It interacts with CCRK/CDK20,
which phosphorylates and activates the ICK/CILK1 kinase that controls the
change in direction of the IFT machinery. Loss of TBC1D32 function
(modelled by BROMI-knockout cells and mouse mutants) produces abnormally
long cilia with accumulation of IFT proteins and ICK at the bulged ciliary
tip, deranging the bidirectional cargo trafficking on which cilium-dependent
signaling depends.
genes:
- preferred_term: TBC1D32
term:
id: hgnc:21485
label: TBC1D32
cell_types:
- preferred_term: ciliated cell
term:
id: CL:0000064
label: ciliated cell
biological_processes:
- preferred_term: intraflagellar transport
term:
id: GO:0042073
label: intraciliary transport
modifier: ABNORMAL
- preferred_term: cilium assembly
term:
id: GO:0060271
label: cilium assembly
modifier: ABNORMAL
- preferred_term: protein localization to cilium
term:
id: GO:0061512
label: protein localization to cilium
modifier: ABNORMAL
evidence:
- reference: PMID:35609210
reference_title: "BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36 contributes to intraflagellar transport turnaround involving ICK/CILK1."
supports: SUPPORT
evidence_source: IN_VITRO
snippet: >-
BROMI/TBC1D32 interacts with CCRK/CDK20, which phosphorylates and
activates the intestinal cell kinase (ICK)/CILK1 kinase, to regulate the
change in direction of the IFT machinery at the ciliary tip.
explanation: >-
Defines the molecular role of TBC1D32/BROMI in regulating IFT turnaround
at the ciliary tip, the upstream lesion of this ciliopathy.
- reference: PMID:35609210
reference_title: "BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36 contributes to intraflagellar transport turnaround involving ICK/CILK1."
supports: SUPPORT
evidence_source: IN_VITRO
snippet: >-
Ciliary defects observed in CCRK-knockout (KO), BROMI-KO, and FAM149B1-KO
cells, including abnormally long cilia and accumulation of the IFT
machinery and ICK at the ciliary tip, resembled one another
explanation: >-
Demonstrates that loss of TBC1D32/BROMI produces abnormal cilia with IFT
accumulation at the ciliary tip, the cellular trafficking defect.
- reference: PMID:35609210
reference_title: "BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36 contributes to intraflagellar transport turnaround involving ICK/CILK1."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Mutations in BROMI, CCRK, and ICK in humans cause ciliopathies
explanation: >-
Confirms that TBC1D32/BROMI mutations cause ciliopathy in humans,
anchoring this gene-specific lesion to the ciliopathy module.
downstream:
- target: Impaired Hedgehog Signal Transduction
description: >-
Deranged ciliary IFT turnaround disrupts the ciliary compartmentalization
of Hedgehog pathway components, impairing cilium-dependent Hedgehog
signal transduction.
- name: Impaired Hedgehog Signal Transduction
conforms_to: "ciliopathy_dysfunction#Impaired Hedgehog Signal Transduction"
description: >-
The CCRK-BROMI(TBC1D32) module governs ciliary Hedgehog signaling. Loss of
CCRK or its TBC1D32/BROMI partner causes overaccumulation of IFT proteins
at the ciliary tip and abnormal enrichment of Hedgehog pathway components
(GPR161 and Smoothened) on the ciliary membrane, deregulating
cilium-dependent Hedgehog signal transduction. Because Hedgehog signaling
patterns the limb and craniofacial midline, its disruption underlies the
polydactyly and oral-facial-digital malformations of the syndrome.
biological_processes:
- preferred_term: Hedgehog (smoothened) signaling pathway
term:
id: GO:0007224
label: smoothened signaling pathway
modifier: DYSREGULATED
evidence:
- reference: PMID:34624068
reference_title: "CCRK/CDK20 regulates ciliary retrograde protein trafficking via interacting with BROMI/TBC1D32."
supports: SUPPORT
evidence_source: IN_VITRO
snippet: >-
CCRK/CDK20 was reported to interact with BROMI/TBC1D32 and regulate
ciliary Hedgehog signaling.
explanation: >-
Establishes that the CCRK-BROMI(TBC1D32) interaction regulates ciliary
Hedgehog signaling, the central effector pathway of this ciliopathy.
- reference: PMID:34624068
reference_title: "CCRK/CDK20 regulates ciliary retrograde protein trafficking via interacting with BROMI/TBC1D32."
supports: SUPPORT
evidence_source: IN_VITRO
snippet: >-
the overaccumulation of IFT proteins at the bulged ciliary tips, which
appear to be eliminated as extracellular vesicles, and the enrichment of
GPR161 and Smoothened on the ciliary membrane
explanation: >-
Shows that loss of the CCRK-BROMI module abnormally enriches Hedgehog
pathway components (GPR161, Smoothened) on the ciliary membrane,
mechanistically linking the trafficking defect to Hedgehog dysregulation.
downstream:
- target: Oral-Facial-Digital Malformation
causal_link_type: DIRECT
description: >-
Dysregulated cilium-dependent Hedgehog signaling disrupts limb and
craniofacial-midline patterning, producing polydactyly and the
oral-facial-digital features of the syndrome.
- name: Oral-Facial-Digital Malformation
conforms_to: "ciliopathy_dysfunction#Skeletal Dysplasia with Polydactyly and Thoracic Constriction"
description: >-
TBC1D32 variants produce an oral-facial-digital syndrome phenotype
(designated OFD-IX) characterized by polydactyly and craniofacial
dysmorphism, reflecting deranged cilium-dependent Hedgehog patterning of the
limb and craniofacial midline. Sensorineural hearing loss has been proposed
as an additional feature of the gene's phenotypic spectrum.
biological_processes:
- preferred_term: limb morphogenesis
term:
id: GO:0035108
label: limb morphogenesis
modifier: ABNORMAL
evidence:
- reference: PMID:40319332
reference_title: "Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Mutations in TBC1D32 were associated to retinal dystrophy and OFD,
defining this form as OFD-IX.
explanation: >-
Establishes the oral-facial-digital (OFD-IX) phenotype as a TBC1D32
manifestation, the malformation read-out of the Hedgehog-patterning
defect.
- reference: PMID:40319332
reference_title: "Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
A clinical exome analysis performed on a patient presenting with OFD-IX
and sensorineural hearing loss (SNHL) identified two variants in TBC1D32
explanation: >-
Documents an OFD-IX patient with TBC1D32 variants and sensorineural
hearing loss, supporting the malformation and hearing components.
- name: Photoreceptor Connecting Cilium Degeneration
conforms_to: "ciliopathy_dysfunction#Photoreceptor Connecting Cilium Degeneration"
description: >-
TBC1D32 is expressed during retinal development and is required for
ciliogenesis of the retinal pigment epithelium and for photoreceptor
connecting-cilium function. TBC1D32 variants disrupt outer-segment
trafficking in cones and rods, causing inherited retinal degeneration
presenting as retinitis pigmentosa / rod-cone degeneration. This retinal
arm has been reported both within the syndromic TBC1D32 spectrum and as a
non-syndromic rod-cone degeneration.
cell_types:
- preferred_term: photoreceptor cell
term:
id: CL:0000210
label: photoreceptor cell
- preferred_term: retinal rod cell
term:
id: CL:0000604
label: retinal rod cell
locations:
- preferred_term: retina
term:
id: UBERON:0000966
label: retina
biological_processes:
- preferred_term: photoreceptor cell maintenance
term:
id: GO:0045494
label: photoreceptor cell maintenance
modifier: DECREASED
evidence:
- reference: PMID:37768732
reference_title: "TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa."
supports: SUPPORT
evidence_source: IN_VITRO
snippet: >-
Overall, our data highlight a critical role for TBC1D32 in the retina and
demonstrate that TBC1D32 mutations lead to RP.
explanation: >-
Demonstrates, using iPSC-derived retinal models, that TBC1D32 mutations
cause retinitis pigmentosa, supporting the retinal-degeneration arm.
- reference: PMID:37768732
reference_title: "TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa."
supports: SUPPORT
evidence_source: IN_VITRO
snippet: >-
our results suggested photoreceptor differentiation defects, including
connecting cilium anomalies, that resulted in impaired trafficking to the
outer segment in cones and rods
explanation: >-
Identifies connecting-cilium anomalies and impaired outer-segment
trafficking in TBC1D32-mutant photoreceptors, the cellular basis of the
degeneration.
downstream:
- target: Rod-Cone Dystrophy
causal_link_type: DIRECT
description: >-
Photoreceptor connecting-cilium dysfunction and impaired outer-segment
trafficking produce progressive rod-cone degeneration.
- name: Hypothalamic-Pituitary Ciliary Dysfunction
conforms_to: "ciliopathy_dysfunction#Hypothalamic Ciliary Signaling and Metabolic Dysfunction"
description: >-
TBC1D32 is expressed in the developing hypothalamus and pituitary gland,
where cilium-dependent (including Hedgehog) signaling governs ventral
forebrain and pituitary development. TBC1D32 variants have been implicated
in congenital hypopituitarism, linking the ciliary defect to
hypothalamic-pituitary developmental endocrinopathy rather than to the
leptin-driven obesity of the classic metabolic-ciliopathy node.
locations:
- preferred_term: hypothalamus
term:
id: UBERON:0001898
label: hypothalamus
biological_processes:
- preferred_term: hypothalamus cell differentiation
term:
id: GO:0021979
label: hypothalamus cell differentiation
modifier: ABNORMAL
evidence:
- reference: PMID:36826837
reference_title: "Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
TBC1D32 is involved in the development and function of cilia and is
expressed in the developing hypothalamus and pituitary gland.
explanation: >-
Establishes hypothalamic-pituitary expression of TBC1D32, the
developmental basis of the endocrine arm of the syndrome.
- reference: PMID:38717911
reference_title: "Exome Sequencing Has a High Diagnostic Rate in Sporadic Congenital Hypopituitarism and Reveals Novel Candidate Genes."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
we add new evidence of pathogenicity in the genes PIBF1 and TBC1D32
explanation: >-
Provides additional human evidence of TBC1D32 pathogenicity in a
congenital hypopituitarism cohort, supporting the hypothalamic-pituitary
arm.
downstream:
- target: Hypopituitarism
causal_link_type: DIRECT
description: >-
Abnormal cilium-dependent hypothalamic-pituitary development produces
congenital hypopituitarism.
phenotypes:
- name: Oral-Facial-Digital Syndrome Dysmorphic Features
category: Craniofacial
description: >-
TBC1D32 variants produce an oral-facial-digital syndrome (OFD-IX), a ciliary
OFD-spectrum disorder presenting with dysmorphic facial features. The HP term
Abnormal facial shape captures the reported dysmorphism; the cited abstract
establishes the OFD-IX designation and dysmorphic features but does not
enumerate the individual oral-facial-digital anomalies.
phenotype_term:
preferred_term: Oral-facial-digital (OFD-IX) dysmorphic facial features
term:
id: HP:0001999
label: Abnormal facial shape
evidence:
- reference: PMID:40319332
reference_title: "Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
oro-facial-digital syndrome (OFD) is caused by mutations in ciliary
genes, leading to dysmorphic features. Mutations in TBC1D32 were
associated to retinal dystrophy and OFD, defining this form as OFD-IX.
explanation: >-
Establishes OFD-IX with dysmorphic facial features as a defining TBC1D32
manifestation.
- name: Rod-Cone Dystrophy
category: Eye
description: >-
Inherited retinal degeneration presenting as retinitis pigmentosa /
rod-cone degeneration, with progressive loss of rod and then cone
photoreceptors, is part of the TBC1D32 phenotypic spectrum.
phenotype_term:
preferred_term: Rod-cone dystrophy
term:
id: HP:0000510
label: Rod-cone dystrophy
evidence:
- reference: PMID:37768732
reference_title: "TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
We report 4 patients presenting with RP from 3 unrelated families with
variants in TBC1D32, which to date has never been associated with an IRD.
explanation: >-
Documents four patients with retinitis pigmentosa carrying TBC1D32
variants, establishing the retinal-degeneration phenotype.
- reference: PMID:39930170
reference_title: "Novel Potentially Pathogenic Variants in TBC1D32 Cause Non-syndromic Rod-Cone Degeneration."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Recently, TBC1D32 has been proposed as a novel recessive RCD gene, as
rare bi-allelic pathogenic variants were found in three unrelated
European families.
explanation: >-
Provides independent secondary evidence of TBC1D32 as a recessive
rod-cone degeneration gene.
- name: Sensorineural Hearing Loss
category: Ear
description: >-
Sensorineural hearing loss has been proposed as a clinical feature of the
TBC1D32-related phenotype, consistent with the role of ciliary Hedgehog
signaling in cochlear development.
phenotype_term:
preferred_term: Sensorineural hearing impairment
term:
id: HP:0000407
label: Sensorineural hearing impairment
evidence:
- reference: PMID:40319332
reference_title: "Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
These results suggest that SNHL may represent a new clinical feature
associated with this gene.
explanation: >-
Proposes sensorineural hearing loss as a clinical feature of
TBC1D32-related disease.
- name: Hypopituitarism
category: Endocrine
description: >-
Congenital hypopituitarism reflects TBC1D32 involvement in the development
of the hypothalamus and pituitary gland.
phenotype_term:
preferred_term: Hypopituitarism
term:
id: HP:0040075
label: Hypopituitarism
evidence:
- reference: PMID:38717911
reference_title: "Exome Sequencing Has a High Diagnostic Rate in Sporadic Congenital Hypopituitarism and Reveals Novel Candidate Genes."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
we add new evidence of pathogenicity in the genes PIBF1 and TBC1D32
explanation: >-
Implicates TBC1D32 pathogenic variants in a congenital hypopituitarism
cohort, supporting the endocrine phenotype.
- name: Life-Limiting Prenatal Phenotype
category: Prenatal
description: >-
At the severe end of the spectrum, TBC1D32 biallelic variants are
associated with a severe prenatal phenotype with life-limiting congenital
anomalies, identified through prenatal exome sequencing in fetal probands.
A generic prenatal-abnormality HP term is used because the abstract
asserts the severe life-limiting prenatal phenotype without enumerating the
specific congenital anomalies.
phenotype_term:
preferred_term: Severe prenatal phenotype with life-limiting congenital anomalies
term:
id: HP:0001197
label: Abnormality of prenatal development or birth
evidence:
- reference: PMID:36826837
reference_title: "Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
a severe prenatal phenotype associated with life-limiting congenital
anomalies
explanation: >-
Documents a severe, life-limiting prenatal phenotype at the severe end of
the TBC1D32 spectrum; the generic prenatal-abnormality term matches the
level of detail the abstract provides.
genetic:
- name: TBC1D32 (BROMI) Variants
association: Causative
gene_term:
preferred_term: TBC1D32
term:
id: hgnc:21485
label: TBC1D32
notes: >-
Biallelic (homozygous or compound heterozygous) variants in TBC1D32 (6q22),
historically named BROMI or C6orf170, cause Alsahan-Harris syndrome
(OMIM:621307). TBC1D32/BROMI functions with CCRK/CDK20 and ICK/CILK1 to
regulate IFT turnaround at the ciliary tip and cilium-dependent Hedgehog
signaling. The human TBC1D32-related ciliopathy was first confirmed by
Alsahan and Alkuraya (PMID:32573025); the phenotypic spectrum was expanded
by Harris et al. (PMID:36826837).
evidence:
- reference: PMID:36826837
reference_title: "Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
We describe seven unpublished probands with rare likely pathogenic
variants or variants of uncertain significance that segregate with
recessive disease in TBC1D32
explanation: >-
Reports multiple probands with recessive-segregating TBC1D32 variants,
establishing TBC1D32 as the causative gene.
- reference: PMID:35609210
reference_title: "BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36 contributes to intraflagellar transport turnaround involving ICK/CILK1."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Mutations in BROMI, CCRK, and ICK in humans cause ciliopathies
explanation: >-
Confirms that BROMI (TBC1D32) mutations cause ciliopathy in humans,
establishing the disease-gene relationship.
diagnosis:
- name: Molecular Genetic Diagnosis
description: >-
Diagnosis rests on identification of biallelic pathogenic TBC1D32 variants
by exome or genome sequencing in a patient with compatible ciliopathy
features (oral-facial-digital anomalies, retinal degeneration,
hypothalamic-pituitary involvement). Because expressivity is highly
variable, TBC1D32 should be considered across this phenotypic spectrum.
diagnosis_term:
preferred_term: molecular genetic testing
term:
id: MAXO:0000533
label: molecular genetic testing
evidence:
- reference: PMID:36826837
reference_title: "Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Exome sequencing is a powerful tool in prenatal and postnatal genetics
and can help identify novel candidate genes critical to human development.
explanation: >-
Supports exome sequencing as the diagnostic modality through which
TBC1D32-related conditions are identified.
treatments:
- name: Supportive and Multidisciplinary Care
description: >-
There is no disease-modifying therapy. Management is supportive and
multidisciplinary, addressing the endocrine (hypopituitarism), visual
(retinal degeneration), audiologic (sensorineural hearing loss), and
developmental manifestations through specialist follow-up and symptomatic
care.
treatment_term:
preferred_term: supportive care
term:
id: MAXO:0000950
label: supportive care
- name: Surgical Correction of Malformations
description: >-
Surgical correction of structural malformations such as polydactyly and
oral-facial anomalies is performed as clinically indicated.
treatment_term:
preferred_term: surgical procedure
term:
id: MAXO:0000004
label: surgical procedure
- name: Genetic Counseling
description: >-
Autosomal recessive inheritance entails a 25% recurrence risk for siblings.
Once biallelic TBC1D32 variants are identified, carrier testing, prenatal
testing, and preimplantation genetic testing become available to families.
treatment_term:
preferred_term: Genetic Counseling
term:
id: NCIT:C15240
label: Genetic Counseling
notes: >-
Gene synonymy: TBC1D32 is also known historically as BROMI and C6orf170;
these names are used interchangeably across the cited mechanistic literature.
Disease/nomenclature: the TBC1D32-related oral-facial-digital syndrome has
been designated OFD-IX (oral-facial-digital syndrome type IX). Eponym
provenance: the name Alsahan-Harris syndrome derives from Alsahan and Alkuraya
(PMID:32573025), who confirmed the TBC1D32-related ciliopathy in humans, and
from Harris et al. (PMID:36826837), who expanded the phenotypic spectrum. The
Alsahan brief report (PMID:32573025) has no PubMed abstract text and is
therefore cited here only as nomenclature provenance, not as an evidence
snippet. This is a TBC1D32-specific ciliopathy and must not be conflated with
other oral-facial-digital syndromes (e.g., OFD I, caused by OFD1, or OFD17,
caused by INTU).
references:
- reference: PMID:36826837
title: "Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy."
- reference: PMID:40319332
title: "Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome."
- reference: PMID:37768732
title: "TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa."
- reference: PMID:39930170
title: "Novel Potentially Pathogenic Variants in TBC1D32 Cause Non-syndromic Rod-Cone Degeneration."
- reference: PMID:38717911
title: "Exome Sequencing Has a High Diagnostic Rate in Sporadic Congenital Hypopituitarism and Reveals Novel Candidate Genes."
- reference: PMID:35609210
title: "BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36 contributes to intraflagellar transport turnaround involving ICK/CILK1."
- reference: PMID:34624068
title: "CCRK/CDK20 regulates ciliary retrograde protein trafficking via interacting with BROMI/TBC1D32."
- reference: PMID:32573025
title: "Confirming TBC1D32-related ciliopathy in humans."