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Article

Progressive brain atrophy and severe neurodevelopmental phenotype in siblings with biallelic COASY variants.

American journal of medical genetics. Part A - 1 Mar 2023

Rosati Justin, Johnson Jessica, Stander Zinandre, White Amy, Tortorelli Silvia, Bailey Diana, Fong Chin-To, Lee Bo Hoon

Abstract excerpt

Biallelic pathogenic variants in the COASY gene have been associated with two distinct disease phenotypes, that is, COASY-protein associated neurodegeneration (CoPAN) and pontocerebellar hypoplasia type 12 (PCH 12). We present two siblings that independently presented with significant hypotonia and respiratory insufficiency at birth. Comprehensive genetic testing revealed homozygous variants within COASY,...

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Identifiers

PMID: 36495139
DOI: 10.1002/ajmg.a.63076

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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