J Genet Med.  2014 Dec;11(2):86-90. 10.5734/JGM.2014.11.2.86.

A case of Smith-Lemli-Opitz syndrome confirmed by molecular analysis: Review of mutation spectrum of the DHCR7 gene in Korea

• Oh MY
• Kim JS
• Kim JH
• Cho JH
• Lee BH
• Kim GH
• Choi JH
• Yoo HW

• KMID: 2184500
• DOI: http://doi.org/10.5734/JGM.2014.11.2.86

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.

Keyword

Smith-Lemli-Opitz syndrome; 7-Dehydrocholesterol reductase; DHCR7

MeSH Terms

Asian Continental Ancestry Group
Cryptorchidism
Ductus Arteriosus, Patent
Far East
Heart Septal Defects, Atrial
Humans
Intellectual Disability
Korea
Male
Microcephaly
Smith-Lemli-Opitz Syndrome*
Syndactyly
Toes