A Novel DHCR7 Mutation in a Smith-Lemli-Opitz Syndrome Infant Presenting with Neonatal Cholestasis.
10.3346/jkms.2010.25.1.159
- Author:
Jae Sung KO
1
;
Byung Sam CHOI
;
Jeong Kee SEO
;
Jee Yeon SHIN
;
Jong Hee CHAE
;
Gyeong Hoon KANG
;
Ran LEE
;
Chang Seok KI
;
Jong Won KIM
Author Information
1. Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea. jkseo@snu.ac.kr
- Publication Type:Case Reports
- Keywords:
Smith-Lemli-Opitz Syndrome;
Cholestasis;
7-dehydrocholesterol reductase;
Mutation
- MeSH:
Amino Acid Substitution;
Base Sequence;
Cholestasis/*diagnosis;
Ductus Arteriosus, Patent/diagnosis;
Electroencephalography;
Humans;
Infant, Newborn;
Liver/pathology/ultrasonography;
Male;
*Mutation, Missense;
Oxidoreductases Acting on CH-CH Group Donors/*genetics;
Phenotype;
Smith-Lemli-Opitz Syndrome/diagnosis/*genetics
- From:Journal of Korean Medical Science
2010;25(1):159-162
- CountryRepublic of Korea
- Language:English
-
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.
