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.
Article
in En
| WPRIM
| ID: wpr-83552
Responsible library:
WPRO
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.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Toes
/
Syndactyly
/
Smith-Lemli-Opitz Syndrome
/
Cryptorchidism
/
Asian People
/
Ductus Arteriosus, Patent
/
Asia, Eastern
/
Heart Septal Defects, Atrial
/
Korea
/
Intellectual Disability
Limits:
Humans
/
Male
Country/Region as subject:
Asia
Language:
En
Journal:
Journal of Genetic Medicine
Year:
2014
Type:
Article