A case of Smith-Lemli-Opitz syndrome confirmed by molecular analysis: Review of mutation spectrum of the DHCR7 gene in Korea
Journal of Genetic Medicine
;
: 86-90, 2014.
Artigo
em Inglês
| WPRIM
| ID: wpr-83552
ABSTRACT
Smith-Lemli-Opitz syndrome (SLOS) is a rare autosomal recessive disorder caused by 7-dehydrocholesterol reductase deficiency. The characteristic clinical features are syndactyly of the second and third toes, facial dysmorphism, multiple malformations, and intellectual disability. Few cases of SLOS have been reported in Korea. We observed a male patient with SLOS who presented with typical facial features, undescended testes, microcephaly, bilateral syndactyly of the second and third toes, and cardiac defects, including patent ductus arteriosus and atrial septal defect. Mutation analysis of the DHCR7 gene identified compound heterozygous mutations of c.907G>A (p.Gly303Arg) and c.1055G>A (p.Arg352Gln). In a review of the literature, c.1054C>T (p.Arg352Trp) was the most common mutation reported in Far East Asian countries. This report describes the clinical features, biochemical data, molecular characteristics, and clinical outcome of a Korean patient with SLOS.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Dedos do Pé
/
Sindactilia
/
Síndrome de Smith-Lemli-Opitz
/
Criptorquidismo
/
Povo Asiático
/
Permeabilidade do Canal Arterial
/
Ásia Oriental
/
Comunicação Interatrial
/
Coreia (Geográfico)
/
Deficiência Intelectual
Limite:
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Journal of Genetic Medicine
Ano de publicação:
2014
Tipo de documento:
Artigo
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