| Wolfram syndrome in the Polish population: novel mutations and genotype-phenotype correlation. | |
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MedLine Citation:
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PMID: 21564155 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Objective: Wolfram syndrome is a rare form of diabetes mellitus associated with optic atrophy and disorders of different organs (e.g., diabetes insipidus, hearing loss, ataxia, anaemia and many others). This syndrome is caused by recessive mutations in the wolframin gene (WFS1) localized on chromosome 4p16.1. The aim of this study was to identify the causative mutations in WFS1 in a group of Polish patients with suspected Wolfram syndrome. Design: Patients and Measurements: Nine patients with clinical symptoms consistent with Wolfram syndrome (at least diabetes mellitus and optic atrophy) and 22 first-degree relatives were examined. The molecular analysis was carried out by direct sequencing of the exons, the exon-intron junctions, and the 5' and 3' untranslated regions of WFS1. Results: Nine different mutations in WFS1 (5 of them novel) were identified in the 9 patients. Six patients were homozygous for the following mutations: V412fs, S443R, W539X, V659fs. They developed diabetes at a mean age of 5.2 years. Three patients were compound-heterozygous for the following mutations: S167fs, Q392X, Y513fs, W648X, V779G. They developed diabetes at a mean age of 6.5 years. Conclusions: Mean age of diagnosis of diabetes among the Polish patients was typical for Wolfram syndrome, however, compound-heterozygous patients were slightly older at diabetes onset. |
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Authors:
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A Zmyslowska; M Borowiec; K Antosik; M Szalecki; A Stefanski; B Iwaniszewska; M Jedrzejczyk; I Pietrzak; W Mlynarski |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-5-12 |
Journal Detail:
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Title: Clinical endocrinology Volume: - ISSN: 1365-2265 ISO Abbreviation: - Publication Date: 2011 May |
Date Detail:
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Created Date: 2011-5-13 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0346653 Medline TA: Clin Endocrinol (Oxf) Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011 Blackwell Publishing Ltd. |
Affiliation:
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Department of Paediatrics, Oncology, Haematology and Diabetology, Medical University of Lodz, Poland Department of Endocrinology and Diabetology, Warsaw, Department of Health Sciences, University of Jan Kochanowski, Kielce, Poland Department of Diabetology and Internal Diseases, Pomeranian Medical University, Szczecin, Poland Department of Pediatrics, Endocrinology and Neurology, L. Rydygier Public Hospital, Torun, Poland Department of Forensic Court and Insurance Certification, Medical University of Lodz, Poland. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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