Two novel mutations of the human Δ7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome

C. Patrono, C. Dionisi-Vici, A. Giannotti, B. Bembi, M. C. Digilio, C. Rizzo, C. Purificato, C. Martini, R. Pierini, F. M. Santorelli

Research output: Contribution to journalArticlepeer-review

Abstract

We analyzed seven unrelated children with the Smith-Lemli-Opitz syndrome (SLOS) for mutations in the Δ7-sterol reductase gene by using SSCP and direct sequencing. We identified two novel mutations (V330M and R363C) in the DHCR7 gene. Reported mutations found in this study were T93M (3/14 alleles), E448K (2/14), and W151X, G244R, P329L, and R446Q (each found in one allele). The so-called common IVS8-1 G → C was found in three alleles, confirming its relative rarity among Italian SLOS families. By using a scoring system, clinical severity did not seem to correlate with 7DHC levels and type of mutation. Expanding the spectrum of mutations in SLOS, our study does not support direct genotype-phenotype correlation.

Original languageEnglish
Pages (from-to)315-318
Number of pages4
JournalMolecular and Cellular Probes
Volume16
Issue number4
DOIs
Publication statusPublished - Aug 2002

Keywords

  • 7-dehydrocholesterol
  • DHCR7 gene
  • Smith-Lemli-Opitz syndrome

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology

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