A Korean case of CTCF related neurodevelopmental disorders

• 영문명: A Korean case of CTCF related neurodevelopmental disorders
• 발행기관: 대한의학유전학회
• 저자명: Seong Ryeong Kang Soo Hyun Seo Kyunghoon Kim Hee Bum Yang Hye Ran Yang Anna Cho
• 간행물 정보: 『대한의학유전학회지』제20권 제2호, 70~74쪽, 전체 5쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2023.12.31

영문 초록

CCCTC-binding factor (CTCF) is a transcriptional regulator that binds to a complex DNA motif in various orientations and plays a crucial role in regulating gene expression, chromatin restructuring, and developmental processes. Mutations in the CTCF are associated with neurodevelopmental disorders. Here we report the first Korean case with a de novo heterozygous variant in the CTCF (c.1025G>A; p.Arg342His). She showed global developmental delay, failure to thrive, and dysmorphic face, which are phenotypes consistent with previous reports in the autosomal dominant intellectual developmental disorder 21 (MIM 615502). She also showed clinical features not previously reported, such as antral web and tracheobronchomalacia. Our case follows suit and expands understanding of this rare disorder by reporting common features and, on the other hand, unreported concomitant congenital anomalies.

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키워드

CCCTC-binding factor Chromosomal proteins non-histone Neurodevelopmental disorders Intellectual disability