GOLGA2-Related Golgin A2 Deficiency Deep Research Fallback

Scope

No provider-generated deep research artifact was present on the WP-068 branch. This fallback audit documents the literature scope used to curate and review the GOLGA2-related entry from cached PubMed references.

Evidence Scope Used For Curation

• PMID:26742501 for the first human biallelic GOLGA2 loss-of-function case, GM130/Golgi apparatus biology, developmental delay, seizures, progressive microcephaly, muscular dystrophy, elevated creatine kinase, hypotonia, strabismus, failure to thrive, thin corpus callosum, mild liver enzyme elevation, and zebrafish knockdown evidence for microcephaly and skeletal muscle disorganization.
• PMID:34424553 for the second consanguineous family with biallelic GOLGA2 loss of function and overlapping microcephaly, seizures, and myopathy.

Curation Conclusions

The supported model is biallelic GOLGA2/GM130 loss impairing cis-Golgi organization, intracellular protein transport, secretion/sorting, and microtubule-related developmental functions. Human and zebrafish evidence support a neurodevelopmental and neuromuscular phenotype with microcephaly, seizures, developmental delay, hypotonia, strabismus, thin corpus callosum, failure to thrive, myopathy or muscular dystrophy, and elevated creatine kinase.