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KMID : 0918520140140010060
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Journal of the Korean Society of Inherited Metabolic Disease
2014 Volume.14 No. 1 p.60 ~ p.65
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A Case of Smith-Lemli-Opitz Syndrome in DHCR7 Mutation
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Jeong Yu-Ju
Huh Rimm
Kwun Young-Hee
Lee Ji-Eun
Cho Sung-Yoon
Ki Chang-Seok
Jin Dong-Kyu
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Abstract
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Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disease caused by a defect in cholesterol biosynthesis. This mutation encodes 7-dehydrocholesterol reductase (DHCR7), which is located on chromosome 11q13. It is characterized by typical facial appearances, microcephaly, small up-turned nose, cleft palate, syndactyly, and is correlated with cardiac, gastrointestinal and genital malformations. There may also be mental retardation, behavioral problems and growth retardation. It causes a broad spectrum of effects, ranging from a mild disorder of learning and behavior to a lethal malformation. There are four reports of Smith-Lemli-Opitz syndrome in Korean children. Here, we describe a two months old female with microcephaly, toe syndactyly and a cleft soft palate who was diagnosed as SLOS with c. 1054 C>T (p.R352W) and c.907G>A (p.G303R) mutations.
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KEYWORD
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Smith-Lemli-Opitz syndrome, DHCR7, Cholesterol
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