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Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping.

American journal of medical genetics - 18 Sept 2000

Krakowiak P A, Nwokoro N A, Wassif C A, Battaile K P, Nowaczyk M J, Connor W E, Maslen C, Steiner R D, Porter F D

Abstract excerpt

We report the clinical and molecular data of 16 patients with RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) with varying phenotypic severity, for which we have identified mutations in both alleles. RSH/SLOS is an autosomal recessive malformation syndrome caused by mutations in the gene encoding the sterol Delta(7)-reductase. This protein catalyzes the reduction of 7-dehydrocholesterol to cholesterol in the last step...

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PMID: 10995508

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