A novel variant combination in COASY associates with severe prenatal onset PCH12: expanding the clinical and genetic spectrum.

Abstract excerpt

Pontocerebellar hypoplasia type 12 (PCH12) is an ultra-rare, perinatal lethal, neurodegenerative disorder with microcephaly and arthrogryposis. Previous reports have associated PCH12 with complete loss-of-function variants in COASY identified in 14 fetuses and newborns from eight unrelated families. In contrast, COASY partial loss-of-function variants have been linked to COASY protein-associated neurodegeneration...

Topics

• Humans
• Female
• Cerebellar Diseases
• Phenotype
• Exome Sequencing
• Mutation, Missense
• Male