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

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

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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