학술논문
A family with X-linked Cornelia de Lange syndrome due to a novel SMC1A missense mutation identified by multi-gene panel sequencing
이용수 3
- 영문명
- 발행기관
- 대한의학유전학회
- 저자명
- Sungwon Hong Cha Gon Lee
- 간행물 정보
- 『대한의학유전학회지』제15권 제1호, 24~27쪽, 전체 4쪽
- 주제분류
- 의약학 > 기타의약학
- 파일형태
- 발행일자
- 2018.06.30
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국문 초록
영문 초록
Cornelia de Lange syndrome (CdLS) is a rare, clinically and genetically heterogeneous, multi-system developmental disorder caused by mutations in genes that encode components of the cohesin complex. X-linked CdLS caused by an SMC1A mutation is an extremely rare disease characterized by phenotypes milder than those of classic CdLS. In the Republic of Korea, based on a literature review, one family with SMC1A-related CdLS with mild phenotypes has been genetically confirmed to date. In this study, we describe the clinical features of a Korean boy with a hemizygous novel missense mutation and his mother with a heterozygous mutation, i.e., c.2447G>A (p.Arg816His) in SMC1A, identified by multi-gene panel sequencing. The proband had a mild phenotype with typical facial features and his mother exhibited a mild, subclinical phenotype.
This study expands the clinical spectrum of patients with X-linked CdLS caused by SMC1A variants. Moreover, these findings reinforce the notion that a dominant negative effect in a carrier female with a heterozygous mutation in SMC1A results in a phenotype milder than that in a male patient with the same mutation.
목차
해당간행물 수록 논문
- A family with X-linked Cornelia de Lange syndrome due to a novel SMC1A missense mutation identified by multi-gene panel sequencing
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- A novel GLA mutation in a Korean boy with an early cardiac manifestation of Fabry disease
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