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Titolo:
Presence of a major WFS1 mutation in Spanish wolfram syndrome pedigrees
Autore:
Gomez-Zaera, M; Strom, TM; Rodriguez, B; Estivill, X; Meitinger, T; Nunes, V;
Indirizzi:
IRO, Ctr Genet Med & Mol, Barcelona, Spain IRO Barcelona SpainIRO, Ctr Genet Med & Mol, Barcelona, Spain Univ Munich, Klinikum Innenstadt, Abt Med Genet, D-8000 Munich, Germany Univ Munich Munich Germany D-8000 Abt Med Genet, D-8000 Munich, Germany
Titolo Testata:
MOLECULAR GENETICS AND METABOLISM
fascicolo: 1, volume: 72, anno: 2001,
pagine: 72 - 81
SICI:
1096-7192(200101)72:1<72:POAMWM>2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
HEREDITARY OPTIC NEUROPATHY; MITOCHONDRIAL-DNA; DIABETES-MELLITUS; DIDMOAD SYNDROME; TRANSMEMBRANE PROTEIN; GENE; DEAFNESS; ATROPHY; DELETION; DISORDER;
Keywords:
Wolfram syndrome; DIDMOAD; WFS1 mutations; mtDNA deletions; mtDNA point mutations;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
28
Recensione:
Indirizzi per estratti:
Indirizzo: Gomez-Zaera, M IRO, Ctr Genet Med & Mol, Barcelona, Spain IRO Barcelona Spain tr Genet Med & Mol, Barcelona, Spain
Citazione:
M. Gomez-Zaera et al., "Presence of a major WFS1 mutation in Spanish wolfram syndrome pedigrees", MOL GEN MET, 72(1), 2001, pp. 72-81

Abstract

Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disease mainly characterized by familial diabetes mellitus and optic atrophy. WS patients frequently present with other clinical features such as diabetes insipidus, renal abnormalities, psychiatric disorders, and a variety of neurologic symptoms: deafness, ataxia, peripheral neuropathy. A gene responsible for Wolfram Syndrome (WFS1) has been recently identified on chromosome 4p16.1. Twenty-two Wolfram patients from 16 Spanish families were screened for mutations in the WFS1 coding region by SSCP analysis and direct sequencing. Since WS has been considered a mitochondrial disorder for some time, mitochondrial DNA (mtDNA) in these families was also examined. WFS1 mutations were detected in 75% of families (12 of 16). One of these mutations, an insertion of 16 base pairs in exon 4, turned out to be notably frequent in Spanish pedigrees. As many as 50% of pedigrees with WFS1 mutations harbored thisinsertion, either in one (33% of cases) or in two chromosomes (67%). Ten other mutations were identified: 7 missense changes, 2 deletions, and 1 nonsense mutation. Only 3 of these changes had been previously described in non-Spanish pedigrees. Large mtDNA rearrangements and LHON point mutations were detected in four and six families, respectively. No correlation could be established between WFS1 gene mutations and specific point mutations or rearrangements in mtDNA. We would suggest first screening for the 16-bp insertion in exon 4 when a new Spanish WS case is reported. (C) 2001 Academic Press.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/01/20 alle ore 03:31:16