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

作者：Ko Jae Sung; Choi Byung Sam; Seo Jeong Kee^*; Shin Jee Yeon; Chae Jong Hee; Kang Gyeong Hoon; Lee Ran; Ki Chang Seok; Kim Jong Won

来源：Journal of Korean Medical Science, 2010, 25(1): 159-162.

DOI：10.3346/jkms.2010.25.1.159

• Smith-Lemli-Opitz Syndrome
• Cholestasis
• 7-dehydrocholesterol reductase
• Mutation

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.

• 出版日期2010-1