A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis.
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.
Ko
Jae Sung
JS
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
Choi
Byung Sam
BS
Seo
Jeong Kee
JK
Shin
Jee Yeon
JY
Chae
Jong Hee
JH
Kang
Gyeong Hoon
GH
Lee
Ran
R
Ki
Chang-Seok
CS
Kim
Jong-Won
JW
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
D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase