Article
Fetal Expression of Pontocerebellar Hypoplasia Linked to Pathogenic COASY Variants.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society - 1 Jan 2026
Garnier Cassandre, Mégier Charles, Dumery Grégoire, Encha-Razavi Ferechté, Martinovic Jelena
Abstract excerpt
INTRODUCTION: Pontocerebellar hypoplasia (PCH) comprises a group of rare, perinatal-onset neurodegenerative genetic disorders characterized by reduced cerebellar and brainstem volume. Among the 17 recognized subtypes listed in the OMIM database, PCH12 is notable for its severe presentation. This subtype results from biallelic pathogenic variants in the COASY gene, leading to loss of function and impair coenzyme A...
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- Humans
- Female
- Cerebellar Diseases
- Pregnancy
- Male
- Ultrasonography, Prenatal