Cerebellar hypoplasia

Gene: COASY

I don't know

Comment on list classification: New gene. Rated Amber until more cases on gene and disease association are reported.

Created: 3 Dec 2018, 11:25 a.m.

added watchlist tag

Created: 3 Dec 2018, 11:24 a.m.

From Dijk et al. (2018) PMID: 30089828 variants in the gene Coenzyme A (CoA) synthase (COASY) gene, an enzyme essential in CoA synthesis. A single variant was identified in 4 individuals in 2 unrelated families with PCH, prenatal onset microcephaly, and arthrogryposis. In both families, the variant c.[1549_1550delAG]; [1486-3 C>G] segregated wth the phenotype. No CoA synthase protein was detected in patient cells by immunoblot analysis and CoA synthase activity was virtually absent. Partial CoA synthase defects were previously described by Dusi et al. (2014) PMID: 24360804 as a cause of COASY Protein-Associated Neurodegeneration (CoPAN), a type of Neurodegeneration and Brain Iron Accumulation (MIM: 615643). Dijk et al. (2018) PMID: 30089828 demonstrate that near complete loss of function variants in COASY are associated with lethal PCH and arthrogryposis.
Sources: Literature

Created: 3 Dec 2018, 11:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Severe prenatal onset pontocerebellar hypoplasia, microcephaly, arthrogryposis

Publications

• 30089828
• 24360804