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A Case of Smith-Lemli-Opitz Syndrome in DHCR7 Mutation  

Jeong, Yu Ju (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Huh, Rimm (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Kwun, Younghee (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Lee, Jieun (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Cho, Sung Yoon (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Ki, Chang-Seok (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Jin, Dong-Kyu (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Publication Information
Journal of The Korean Society of Inherited Metabolic disease / v.14, no.1, 2014 , pp. 60-65 More about this Journal
Abstract
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.
Keywords
Smith-Lemli-Opitz syndrome; DHCR7; Cholesterol;
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