Smith-Lemli-Opitz syndrome: Evidence of T93M as a common mutation of Δ7-sterol reductase in Italy and report of three novel mutations

D. De Brasi, T. Esposito, M. Rossi, G. Parenti, M. P. Sperandeo, A. Zuppaldi, T. Bardaro, Ma Ambruzzi, L. Zelante, A. Ciccodicola, G. Sebastio, M. D'Urso, G. Andria

Research output: Contribution to journalArticlepeer-review

Abstract

The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis characterised by facial dysmorphisms, mental retardation and multiple congenital anomalies. SLOS is caused by mutations of the human Δ7-sterol reductase (DHCR7) gene and, so far, 19 different mutations have been described. Among these, mutations impairing the activity of the C-terminus appear to be the most severe. Here we report the mutational analysis of the DHCR7 gene in nine Italian SLOS patients. The T93M mutation, previously reported in one patient, results the most frequent one (7/18 alleles) in our survey. Furthermore, we identified three novel mutations, two missense mutations (N407Y and E448K), and a 33 bp deletion spanning part of exon 5 and the donor splice site of intron 5.

Original languageEnglish
Pages (from-to)937-940
Number of pages4
JournalEuropean Journal of Human Genetics
Volume7
Issue number8
Publication statusPublished - 1999

Keywords

  • Δ7-sterol reductase
  • DHCR7 mutations
  • Smith-Lemli-Opitz syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

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