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Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome.

Authors
  • Patrono, C
  • Dionisi-Vici, C
  • Giannotti, A
  • Bembi, B
  • Digilio, M C
  • Rizzo, C
  • Purificato, C
  • Martini, C
  • Pierini, R
  • Santorelli, F M
Type
Published Article
Journal
Molecular and cellular probes
Publication Date
Aug 01, 2002
Volume
16
Issue
4
Pages
315–318
Identifiers
PMID: 12270273
Source
Medline
License
Unknown

Abstract

We analyzed seven unrelated children with the Smith-Lemli-Opitz syndrome (SLOS) for mutations in the delta7-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.

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