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.
Artículo
en Inglés
| 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Dedos del Pie
/
Sindactilia
/
Síndrome de Smith-Lemli-Opitz
/
Criptorquidismo
/
Pueblo Asiatico
/
Conducto Arterioso Permeable
/
Asia Oriental
/
Defectos del Tabique Interatrial
/
Corea (Geográfico)
/
Discapacidad Intelectual
Límite:
Humanos
/
Masculino
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Journal of Genetic Medicine
Año:
2014
Tipo del documento:
Artículo
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