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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Villamar, Manuela Petit, Christine Moreno-Pelayo, Miguel A. Abeliovich, Dvorah Cockburn, David J. Estivill, Xavier Brownstein, Zippora Ballana, Ester Maciel-Guerra, Andréa Trevas Del Castillo, Ignacio Dahl, Hans-Henrik M. Pandya, Arti Marlin, Sandrine Hutchin, Tim Smith, Richard J. H. Gasparini, Paolo Del Castillo, Francisco J. Siemering, Kirby R. Sartorato, Edi L. Chamberlin, G. Parker Nance, Walter E. Alvarez, Araceli Avraham, Karen B. Van Camp, Guy Wuyts, Wim Adina, Quint Shohat, Mordechai Moreno, Felipe |
| Spatial Coverage | United States Europe Israel |
| Description | Country affiliation: Spain Author Affiliation: Del Castillo I ( Unidad de Genética Molecular, Hospital Ramón y Cajal, Madrid, Spain.) |
| Abstract | Mutations in GJB2, the gene encoding connexin-26 at the DFNB1 locus on 13q12, are found in as many as 50% of subjects with autosomal recessive, nonsyndromic prelingual hearing impairment. However, genetic diagnosis is complicated by the fact that 10%-50% of affected subjects with GJB2 mutations carry only one mutant allele. Recently, a deletion truncating the GJB6 gene (encoding connexin-30), near GJB2 on 13q12, was shown to be the accompanying mutation in approximately 50% of these deaf GJB2 heterozygotes in a cohort of Spanish patients, thus becoming second only to 35delG at GJB2 as the most frequent mutation causing prelingual hearing impairment in Spain. Here, we present data from a multicenter study in nine countries that shows that the deletion is present in most of the screened populations, with higher frequencies in France, Spain, and Israel, where the percentages of unexplained GJB2 heterozygotes fell to 16.0%-20.9% after screening for the del(GJB6-D13S1830) mutation. Our results also suggest that additional mutations remain to be identified, either in DFNB1 or in other unlinked genes involved in epistatic interactions with GJB2. Analysis of haplotypes associated with the deletion revealed a founder effect in Ashkenazi Jews and also suggested a common founder for countries in Western Europe. These results have important implications for the diagnosis and counseling of families with DFNB1 deafness. |
| ISSN | 00029297 |
| e-ISSN | 15376605 |
| Journal | The American Journal of Human Genetics |
| Issue Number | 6 |
| Volume Number | 73 |
| Language | English |
| Publisher | Cell Press (on behalf of American Society of Human Genetics) |
| Publisher Date | 2003-12-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Connexins Genetics Evolution, Molecular Hearing Loss Dna Primers Founder Effect Gene Frequency Genetic Testing Haplotypes Israel Jews Microsatellite Repeats Mutation Comparative Study Multicenter Study Research Support, Non-u.s. Gov't Discipline Human Genetics |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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