title: Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient.
abstract: 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.
authors.affiliation: Institute of Medical Biology and Human Genetics, University of Innsbruck, Schoepfstrasse 41, A 6020 Innsbruck, Austria.
authors.forename: Judith
authors.initials: J
authors.lastname: Loeffler
authors.forename: Gerd
authors.initials: G
authors.lastname: Utermann
authors.forename: Martina
authors.initials: M
authors.lastname: Witsch-Baumgartner
mesh_terms: D000328:Adult; D015193:Chorionic Villi Sampling; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D010088:Oxidoreductases / Q000235:genetics; D044925:Oxidoreductases Acting on CH-CH Group Donors; D011247:Pregnancy; D015203:Reproducibility of Results; D019082:Smith-Lemli-Opitz Syndrome / Q000175:diagnosis* / Q000235:genetics
chemical_list: D017931:DNA Primers; D004247:DNA; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase