A family with X-linked Cornelia de Lange syndrome due to a novel SMC1A missense mutation identified by multi-gene panel sequencing.
- Author:
Sungwon HONG
1
;
Cha Gon LEE
Author Information
- Publication Type:Case Report
- Keywords: SMC1A; De Lange syndrome; X-Linked genes; High-throughput nucleotide sequencing
- MeSH: De Lange Syndrome*; Female; Genes, X-Linked; High-Throughput Nucleotide Sequencing; Humans; Male; Mothers; Mutation, Missense*; Phenotype; Rare Diseases; Republic of Korea
- From:Journal of Genetic Medicine 2018;15(1):24-27
- CountryRepublic of Korea
- Language:English
- Abstract: 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.
