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Journal of Child Neurology
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Identification of a Novel DHCR7 Mutation in a Korean Patient With Smith-Lemli-Opitz Syndrome

Jong Hee Chae, MD, PhD

Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea

Ki Joong Kim, MD, PhD

Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea, pednr{at}plaza.snu.ac.kr

Yong Seung Hwang, MD, PhD

Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea

Chang-Seok Ki, MD, PhD

Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

Jong-Won Kim, MD, PhD

Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

Smith-Lemli-Opitz syndrome is a unique malformation syndrome characterized by a defect in cholesterol biosynthesis, which is very rare among populations in Middle and East Asia. The authors identified compound heterozygous mutations ([p.Arg352Trp] + [p.Lys376ArgfsX37]) in a Korean girl with clinical and laboratory features typical of Smith-Lemli-Opitz syndrome. The Lys376ArgfsX37 mutation is a novel mutation, and to the best of the authors' knowledge, this is the first report of a clinically and genetically confirmed case of Smith-Lemli-Opitz syndrome in Korea.

Key Words: Smith-Lemli-Opitz syndrome • DHCR 7 gene

Journal of Child Neurology, Vol. 22, No. 11, 1297-1300 (2007)
DOI: 10.1177/0883073807307099
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