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- Title
Clinical Picture, Evolution and Peculiar Molecular Findings in a Very Large Pedigree with Wolfram Syndrome.
- Authors
Lombardo, Fortunato; Chiurazzi, Pietro; Hörtnagel, Konstanze; Arrigo, Teresa; Valenzise, Mariella; Meitinger, Thomas; Messina, Maria Francesca; Salzano, Giuseppina; Barberi, Ignazio; De Luca, Filippo
- Abstract
Obiectives: a) To describe a very extended inbred pedigree with Wolfram syndrome (WS) (OMIM #222300); b) to report both the clinical picture and evolution in *Ms large family and a peculiar mutation which lias been reported hitherto only in Italian patients. Design: The five-generation pedigree from Sicily was reconstructed through a proband with all the main manifestation WS, born to a couple of healthy consanguineous parents. DNA examination was performed in both patients and healthy family members. Results: In all seven patients we found a homozygous 16-bp deletion in exon 8 of the WFS1 gene that introduces a stop codon in position 454. Conclusions: This inbred pedigree is the largest with WS described in the literature. Its analysis definitively confirms the view of autosomal recessive inheritance in WS. The 16-bp deletion appears to be a relatively frequent mutation only in Italian patients. Before examining the entire coding region of the WSF1 gene a preliminary screening for the 16-bp deletion in exon 8 might be suggested when a new Italian case of WS is investigated.
- Publication
Journal of Pediatric Endocrinology & Metabolism, 2005, Vol 18, Issue 12, p1391
- ISSN
0334-018X
- Publication type
Article
- DOI
10.1515/jpem.2005.18.12.1391