Document Detail


Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness.
MedLine Citation:
PMID:  15253766     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Mutations in the gene gap junction beta 2 (GJB2), the gene for the connexin 26, are the most common cause of pre-lingual deafness worldwide. The mutation 35delG within GJB2 is prevalent in Europe. To date, there are no data about GJB2 mutation spectrum and frequencies from the Czech population. We investigated and report here the spectrum and frequencies of mutations in the GJB2 gene among 156 unrelated, congenital deafness Czech patients. Allele-specific polymerase chain reaction, together with fluorescent fragment analysis, were used for the detection of the 35delG mutation. The entire coding region of the GJB2 was directly sequenced in all patients who were not homozygous for the 35delG. No pathogenic mutation was detected in 51.9% of patients. At least one pathogenic mutation was found in 48.1% of patients, and both pathogenic mutations were detected in 37.8% of patients. Single mutations in a heterozygous state were detected in 10.3% of patients. The mutation 35delG accounts for 82.8% of detected disease mutations, Trp24stop accounts for 9.7% of pathogenic alleles and was found in patients with gypsy heritage. Mutation 313del14 accounts for 3.7% of pathogenic alleles. The frequency of 35delG heterozygotes in the Czech Republic is 1 : 29.6. Testing for only the three most common mutations would detect over 96% of all pathogenic alleles in the Czech Republic.
Authors:
P Seeman; M Malíková; D Rasková; O Bendová; D Groh; M Kubálková; I Sakmaryová; E Seemanová; Z Kabelka
Related Documents :
20118786 - Absence of phenotype-genotype correlation of patients expressing mutations in the slc4a...
15829536 - Modification of human hearing loss by plasma-membrane calcium pump pmca2.
17253936 - High frequency of 35delg gjb2 mutation and absence of del(gjb6-d13s1830) in greek cypri...
16088916 - High prevalence of the w24x mutation in the gene encoding connexin-26 (gjb2) in spanish...
21305566 - Prenatal diagnosis of duchenne/becker muscular dystrophy by short tandem repeat segrega...
23502136 - Genome-wide association studies of human growth traits.
Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Clinical genetics     Volume:  66     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  2004 Aug 
Date Detail:
Created Date:  2004-07-15     Completed Date:  2005-02-24     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  152-7     Citation Subset:  IM    
Copyright Information:
Copyright 2004 Blackwell Munksgaard
Affiliation:
Department of Child Neurology, DNA Laboratory, Charles University Prague, 2nd School of Medicine, Prague, Czech Republic.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Cohort Studies
Connexins / genetics*
Czech Republic
DNA Mutational Analysis
DNA Primers
Deafness / genetics*
Humans
Mutation / genetics*
Sequence Analysis, DNA
Chemical
Reg. No./Substance:
0/Connexins; 0/DNA Primers; 127120-53-0/connexin 26

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


Previous Document:  Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary ex...
Next Document:  Enzyme replacement therapy with agalsidase beta improves cardiac involvement in Fabry's disease.