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A Novel DHCR7 Mutation in a Smith-Lemli-Opitz Syndrome Infant Presenting with Neonatal Cholestasis

Cited 7 time in Web of Science Cited 7 time in Scopus
Authors
Ko, Jae Sung; Choi, Byung Sam; Seo, Jeong Kee; Shin, Jee Yeon; Kang, Gyeong Hoon; Ki, Chang-Seok; Kim, Jong-Won; Lee, Ran; Chae, Jong Hee
Issue Date
2010-01
Publisher
KOREAN ACAD MEDICAL SCIENCES
Citation
JOURNAL OF KOREAN MEDICAL SCIENCE; Vol.25 1; 159-162
Keywords
Smith-Lemli-Opitz SyndromeCholestasisMutation7-dehydrocholesterol reductase
Abstract
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive malformation syndrome caused by a defect in cholesterol biosynthesis. The incidence is very low in Asians and only one case has been reported in Korea thus far. Recently, we found an infant with neonatal cholestasis. He had microcephaly, ambiguous genitalia, cleft palate, syndactyly of toes, patent ductus arteriosus and hypertrophic pyloric stenosis. The serum cholesterol was decreased and serum 7-dehydrocholesterol was markedly elevated. Genetic analysis of the DHCR7 gene identified a novel missense mutation (Pro227Ser) as well as a known mutation (Gly303Arg) previously identified in a Japanese patient with SLOS. Although rare in Korea, SLOS should be considered in the differential diagnosis of neonatal cholestasis, especially in patients with multiple congenital anomalies and low serum cholesterol levels.
ISSN
1011-8934
Language
English
URI
http://hdl.handle.net/10371/76720
DOI
https://doi.org/10.3346/jkms.2010.25.1.159
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College of Medicine/School of Medicine (의과대학/대학원)Pathology (병리학전공)Journal Papers (저널논문_병리학전공)
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