|
KMID : 0191120100250010159
|
|
Journal of Korean Medical Science
2010 Volume.25 No. 1 p.159 ~ p.162
|
|
|
A Novel DHCR7 Mutation in a Smith-Lemli-Opitz Syndrome Infant Presenting with Neonatal Cholestasis
|
|
Ko Jae-Sung
Choi Byung-Sam
Seo Jeong-Kee
Shin Jee-Youn
Chae Jong-Hee
Kang Gyeong-Hoon
Lee Ran
Ki Chang-Seok
Kim Jong-Won
Choi Byung-Sam
Seo Jeong-Kee
Shin Jee-Yeon
Chae Jong-Hee
Kang Gyeong-Hoon
Lee Ran
Ki Chang-Seok
Kim Jong-Won
|
|
|
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.
|
|
|
KEYWORD
|
|
|
Smith-Lemli-Opitz Syndrome, Cholestasis, 7-dehydrocholesterol reductase, Mutation
|
|
|
FullTexts / Linksout information
|
|
 
|
|
|
Listed journal information
|
|
    
|