title: A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis.
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.
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Jae Sung
authors.initials: JS
authors.lastname: Ko
authors.forename: Byung Sam
authors.initials: BS
authors.lastname: Choi
authors.forename: Jeong Kee
authors.initials: JK
authors.lastname: Seo
authors.forename: Jee Yeon
authors.initials: JY
authors.lastname: Shin
authors.forename: Jong Hee
authors.initials: JH
authors.lastname: Chae
authors.forename: Gyeong Hoon
authors.initials: GH
authors.lastname: Kang
authors.forename: Ran
authors.initials: R
authors.lastname: Lee
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Jong-Won
authors.initials: JW
authors.lastname: Kim
mesh_terms: D019943:Amino Acid Substitution; D001483:Base Sequence; D002779:Cholestasis / Q000175:diagnosis*; D004374:Ductus Arteriosus, Patent / Q000175:diagnosis; D004569:Electroencephalography; D006801:Humans; D007231:Infant, Newborn; D008099:Liver / Q000000981:diagnostic imaging / Q000473:pathology; D008297:Male; D020125:Mutation, Missense; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000235:genetics*; D010641:Phenotype; D019082:Smith-Lemli-Opitz Syndrome / Q000175:diagnosis / Q000235:genetics*; D014463:Ultrasonography
chemical_list: D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase