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KMID : 1189120140110020086
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대한의학유전학회지
2014 Volume.11 No. 2 p.86 ~ p.90
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A case of Smith-Lemli-Opitz syndrome confirmed by molecular analysis: Review of mutation spectrum of the DHCR7 gene in Korea
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Oh Moon-Yeon
Kim Jun-Suk
Kim Ja-Hye
Cho Ja-Hyang
Lee Beom-Hee
Kim Gu-Hwan
Choi Jin-Ho
Yoo Han-Wook
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Abstract
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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.
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KEYWORD
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Smith-Lemli-Opitz syndrome, 7-Dehydrocholesterol reductase, DHCR7
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