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Article

COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum.

American journal of medical genetics. Part A - 1 Aug 2022

Mishra Ranjana, Kulshreshtha Samarth, Mandal Kausik, Khurana Ashok, Diego-Álvarez Dan, Pradas Laura, Saxena Renu, Phadke Shubha, Moirangthem Amita, Masih Suzena, Sud Seema, Verma Ishwar Chander, Dua Puri Ratna

Abstract excerpt

Pontocerebellar hypoplasia (PCH) type 12 is a rare, perinatal lethal neurodegenerative genetic disorder caused by biallelic mutations in the COASY gene. Herein, we describe the clinical and neuroradiological profile of nine affected fetuses/neonates from five families identified with a common COASY: c.1486-3C>G biallelic variant. Four of the five families were identified after data reanalysis of unresolved,...

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PMID: 35499143
DOI: 10.1002/ajmg.a.62768

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