Document Detail


First prenatal diagnosis for Wolfram syndrome by molecular analysis of the WFS1 gene.
MedLine Citation:
PMID:  15503287     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Enric Domènech; Helena Kruyer; Carolina Gómez; Maria Teresa Calvo; Virginia Nunes
Related Documents :
22621857 - Bilateral medial foot compartment syndrome after an aerobics class: a case report.
17852457 - Pearson syndrome in an infant heterozygous for c282y allele of hfe gene.
18215147 - Mitochondrial non-syndromic sensorineural hearing loss: a clinical, audiological and pa...
14521567 - Isotretinoin treatment of acne in a patient with apert syndrome.
3674187 - Ocular pigmented spots and eyelid myxomas.
23230547 - Prenatal diagnosis of lethal multiple pterygium syndrome using two-and three-dimensiona...
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.
Affiliation:
Centre de Genètica Mèdica i Molecular, Institut de Recerca Oncològica, L'Hospitalet de Llobregat, Barcelona, Spain.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Adult
Child, Preschool
Chromosomes, Human, Pair 17
Cytogenetic Analysis / methods*
Diabetes Mellitus / genetics
Female
Fetal Diseases / diagnosis*,  embryology,  genetics
Gestational Age
Heterozygote
Homozygote
Humans
In Situ Hybridization, Fluorescence
Membrane Proteins / genetics*
Mutation / genetics
Optic Atrophies, Hereditary / genetics
Pedigree
Pregnancy
Prenatal Diagnosis / methods*
Wolfram Syndrome / diagnosis*,  embryology,  genetics*
Chemical
Reg. No./Substance:
0/Membrane Proteins; 0/wolframin protein

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Evaluation of fetal cardiac contractility by two-dimensional ultrasonography.
Next Document:  Prenatal diagnosis of tetrasomy 9p in a 19-week-old fetus with Dandy-Walker malformation: a case rep...