A Novel Mutation of the DHCR7 Gene in a Sicilian Compound Heterozygote with Smith-Lemli-Opitz Syndrome

Davide Noto, Angelo Baldassare Cefalu', Maurizio Averna, Franca Maria Pezzino, Angelo Baldassare Cefalù, Fabrizio Romano, Ambra Puglisi, Maria Teresa Longombardo, Barbara Fiore, Teresa Mattina, Davide Noto, Salvatore Travali, Alfio Brogna, Maurizio Averna

Risultato della ricerca: Articlepeer review

4 Citazioni (Scopus)

Abstract

INTRODUCTION:Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis, resulting from deficient 7-dehydrocholesterol reductase (3beta-hydroxysterol Delta7-reductase) activity, the enzyme responsible for conversion of 7-dehydrocholesterol to cholesterol. SLOS is most common among people of European descent, with a reported incidence of 1 per 20,000-60,000 newborns, depending on the diagnostic criteria and the reference population. More than 80 different mutations have been identified in several hundred patients. In Italy, SLOS appears to be a rare condition, probably because of underdiagnosis.METHOD:We analyzed by direct sequencing the 7-dehydrocholesterol reductase gene (DHCR7) in a Sicilian patient with Smith-Lemli-Opitz syndrome and his parents in order to characterize the molecular defect.RESULTS:The molecular analysis of the coding exons and the intron-exon boundaries of the DHCR7 gene demonstrated the presence of two missense mutations: a novel mutation (I251N) and a known mutation (E288K) responsible in a compound heterozygous state for a severe form of SLOS.CONCLUSION:The present study describes a Sicilian patient, a carrier of a novel mutation of the DHCR7 gene (I251N), which is responsible in a compound heterozygous state for a severe form of SLOS.
Lingua originaleEnglish
pagine (da-a)201-204
Numero di pagine4
RivistaMolecular Diagnosis
Volume9
Stato di pubblicazionePublished - 2005

All Science Journal Classification (ASJC) codes

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