Document Detail

First prenatal diagnosis for Wolfram syndrome by molecular analysis of the WFS1 gene.
MedLine Citation:
PMID:  15503287     Owner:  NLM     Status:  MEDLINE    
Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by early onset diabetes mellitus and progressive optic atrophy in the first decade of life. Other clinical features such as diabetes insipidus, deafness, renal tract abnormalities or psychiatric illnesses are often present. The sequence of the Wolfram syndrome gene (WFS1) was described in 1998, and mutations in the gene have been reported in many populations. To date, the function of the putative protein remains unknown. Here we report prenatal diagnosis by analysing the WFS1 gene, in a foetus belonging to a family with a child diagnosed for Wolfram syndrome. The parents are carriers of the c.2206G > C (G736R) mutation. To our knowledge this is the first description of prenatal diagnosis for Wolfram syndrome, based on the molecular analysis of the WFS1 gene.
Enric Domènech; Helena Kruyer; Carolina Gómez; Maria Teresa Calvo; Virginia Nunes
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  24     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2004 Oct 
Date Detail:
Created Date:  2004-11-01     Completed Date:  2005-04-22     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  787-9     Citation Subset:  IM    
Copyright Information:
Copyright (c) 2004 John Wiley & Sons, Ltd.
Centre de Genètica Mèdica i Molecular, Institut de Recerca Oncològica, L'Hospitalet de Llobregat, Barcelona, Spain.
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MeSH Terms
Child, Preschool
Chromosomes, Human, Pair 17
Cytogenetic Analysis / methods*
Diabetes Mellitus / genetics
Fetal Diseases / diagnosis*,  embryology,  genetics
Gestational Age
In Situ Hybridization, Fluorescence
Membrane Proteins / genetics*
Mutation / genetics
Optic Atrophies, Hereditary / genetics
Prenatal Diagnosis / methods*
Wolfram Syndrome / diagnosis*,  embryology,  genetics*
Reg. No./Substance:
0/Membrane Proteins; 0/wolframin protein

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