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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 24 - 27 (4page)
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초록· 키워드
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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.
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참고문헌 (12)
참고문헌 신청
Ansari M / 2014 / Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism / J Med Genet 51:659~668
Boyle MI / 2015 / Cornelia de Lange syndrome / Clin Genet 88:1~12
Liu J / 2009 / Cornelia de Lange syndrome, cohesin, and beyond / Clin Genet 76:303~314
Borck G / 2007 / Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations / Hum Mutat 28:205~206
Huisman S / 2017 / Phenotypes and genotypes in individuals with SMC1A variants / Am J Med Genet A 173:2108~2125
Boyle MI / 2015 / Cornelia de Lange syndrome / Clin Genet 88:1~12
Liu J / 2009 / Cornelia de Lange syndrome, cohesin, and beyond / Clin Genet 76:303~314
Borck G / 2007 / Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations / Hum Mutat 28:205~206
Huisman S / 2017 / Phenotypes and genotypes in individuals with SMC1A variants / Am J Med Genet A 173:2108~2125
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