A family with X-linked Cornelia de Lange syndrome due to a novel SMC1A missense mutation identified by multi-gene panel sequencing
Journal of Genetic Medicine
;
: 24-27, 2018.
Article
in English
| WPRIM
| ID: wpr-715204
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
Mutation, Missense
/
De Lange Syndrome
/
Rare Diseases
/
Genes, X-Linked
/
Republic of Korea
/
High-Throughput Nucleotide Sequencing
/
Mothers
Type of study:
Prognostic study
Limits:
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
English
Journal:
Journal of Genetic Medicine
Year:
2018
Type:
Article
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