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

• Published in: Journal of genetic medicine Vol. 11; no. 2; pp. 86 - 90
• Main Authors: Oh, Moon-Yeon, Kim, Jun Suk, Kim, Ja Hye, Cho, Ja Hyang, Lee, Beom Hee, Kim, Gu-Hwan, Choi, Jin-Ho, Yoo, Han-Wook
• Format: Journal Article
• Language: English
• Published: 대한의학유전학회 31.12.2014
• Subjects: 의학일반
• ISSN: 1226-1769; 2383-8442
• DOI: 10.5734/JGM.2014.11.2.86

Smith-Lemli-Opitz syndrome (SLOS) is a rare autosomal recessive disorder caused by 7-dehydrocholesterol reductasedeficiency. The characteristic clinical features are syndactyly of the second and third toes, facial dysmorphism, multiplemalformations, and intellectual disability. Few cases of SLOS have been reported in Korea. We observed a male patient withSLOS who presented with typical facial features, undescended testes, microcephaly, bilateral syndactyly of the second andthird toes, and cardiac defects, including patent ductus arteriosus and atrial septal defect. Mutation analysis of the DHCR7gene identified compound heterozygous mutations of c.907G>A (p.Gly303Arg) and c.1055G>A (p.Arg352Gln). In a reviewof the literature, c.1054C>T (p.Arg352Trp) was the most common mutation reported in Far East Asian countries. This reportdescribes the clinical features, biochemical data, molecular characteristics, and clinical outcome of a Korean patient withSLOS. KCI Citation Count: 0