A Novel DHCR7 Mutation in a Smith-Lemli-Opitz Syndrome Infant Presenting with Neonatal Cholestasis
Journal of Korean Medical Science
;
: 159-162, 2010.
Article
in English
| WPRIM
| ID: wpr-176240
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
Base Sequence
/
Cholestasis
/
Smith-Lemli-Opitz Syndrome
/
Amino Acid Substitution
/
Mutation, Missense
/
Oxidoreductases Acting on CH-CH Group Donors
/
Ductus Arteriosus, Patent
/
Electroencephalography
/
Liver
Type of study:
Prognostic study
Limits:
Humans
/
Male
/
Infant, Newborn
Language:
English
Journal:
Journal of Korean Medical Science
Year:
2010
Type:
Article
Similar
MEDLINE
...
LILACS
LIS