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Molecular prenatal diagnosis of Smith–Lemli–Opitz syndrome is reliable and efficient
Author(s) -
Loeffler Judith,
Utermann Gerd,
WitschBaumgartner Martina
Publication year - 2002
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.419
Subject(s) - smith–lemli–opitz syndrome , prenatal diagnosis , chorionic villi , biology , phenotype , gene , mutation , genetics , fetus , medicine , reductase , pregnancy , 7 dehydrocholesterol reductase , enzyme , biochemistry
Smith–Lemli–Opitz (RSH) syndrome (SLOS, OMIM 270400) is a relatively common, autosomal recessive disorder of cholesterol biosynthesis with a broad spectrum of phenotypic abnormalities caused by mutations of the 7‐dehydrocholesterol reductase gene ( DHCR7 ) on chromosome 11. Prenatal diagnosis can be established by detection of elevated 7‐dehydrocholesterol or of SLOS‐causing mutations in the DHCR7 gene. We report here our experience with molecular prenatal diagnosis of SLOS. Mutation analysis of the DHCR7 gene was performed in chorionic villus samples of 13 pregnancies of couples with a family history of SLOS and known SLOS genotypes. This approach is accurate and reliable. If facilities for biochemical analysis are not available, or in cases with ambiguous biochemical patterns, molecular prenatal diagnosis is an attractive, alternative option. Copyright © 2002 John Wiley & Sons, Ltd.