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

摘要: We report the clinical and molecular data of 16 patients with RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) varying phenotypic severity, for which we have identified mutations in both alleles. RSH/SLOS is an autosomal recessive malformation caused by gene encoding sterol Δ7-reductase. This protein catalyzes reduction 7-dehydrocholesterol to cholesterol last step biosynthesis via Kandutsch-Russell pathway. In addition previously reported (T93M, L109P, G147D, W151X, T154M, R242C, A247V, T289I, IVS8-1GC, Y408H, E448K), six undescribed (321GC, W177R, R242H, Y318N, L341P, C444Y). also rapid polymerase chain reaction (PCR)–based assays developed detect four recurring V326L, R404C) other L341P). The purpose this article correlate detailed information order improve our understanding genotype–phenotype correlation development PCR-based that will allow more mutation analysis. Am. J. Med. Genet. 94:214–227, 2000. Published 2000 Wiley-Liss, Inc.