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Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome.

American journal of medical genetics. Part A - 1 Sept 2024

Blanc Albin, Bonnet Céline, Wandzel Marion, Roth Virginie, Duffourd Yannis, Safraou Hanna, Leheup Bruno, Muller Florence, D Colne Julie, Feillet François, Schmitt Emmanuelle, Castro Matheus, Savatt Jullian, Burcheri Adriano, Nemos Christophe, Philippe Christophe, Lambert Laëtitia

Abstract excerpt

The autosomal dominant Okur-Chung neurodevelopmental syndrome (OCNDS: OMIM #617062) is a rare neurodevelopmental disorder first described in 2016. Features include developmental delay (DD), intellectual disability (ID), behavioral problems, hypotonia, language deficits, congenital heart abnormalities, and non-specific dysmorphic facial features. OCNDS is caused by heterozygous pathogenic variants in CSNK2A1 (OMIM...

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PMID: 38711237
DOI: 10.1002/ajmg.a.63642

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