Variant of CHD1 gene resulting in a Korean case of Pilarowski-Bjornsson syndrome

• 영문명: Variant of CHD1 gene resulting in a Korean case of Pilarowski-Bjornsson syndrome
• 발행기관: 대한의학유전학회
• 저자명: Yoon Sunwoo Soo Hyun Seo Ho-Joong Kim Moon Seok Park Anna Cho
• 간행물 정보: 『대한의학유전학회지』제19권 제2호, 111~114쪽, 전체 4쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2022.12.31

영문 초록

Many monogenic neurodevelopmental disorders have been newly identified in recent years owing to the rapid development of genetic sequencing technology. These include variants of the epigenetic machinery - up to 300 known epigenetic factors of which about 50 have been linked to specific clinical phenotypes. Chromodomain, helicase, DNA binding 1 (CHD1) is an ATP-dependent chromatin remodeler, known to be the causative gene of the autosomal dominant neurodevelopmental dis-order Pilarowski-Bjornsson syndrome. Patients exhibit various degrees of global developmental delay, autism, speech aprax-ia, seizures, growth retardation, and craniofacial dysmorphism. We report the first case of Pilarowski-Bjornsson syndrome in Korea, due to a de novo missense variant of the CHD1 gene (c.862A>G, p.Thr288Ala) in a previously undiagnosed 17-year-old male. His infantile onset of severe global developmental delay, intellectual disability, speech apraxia, and failure to thrive are compatible with Pilarowski-Bjornsson syndrome. We also noted some features not previously reported in this syndrome such as skeletal dysplasia and ichthyosis. Further studies are needed to discover the specific phenotypes and pathogenic mechanisms behind this rare disorder.

목차

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Authors’ Contributions

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키워드

Pilarowski-Bjornsson syndrome CHD1 Neurodevelopmental disorder Speech apraxia Skeletal dysplasia