Localization of a Novel Autosomal Recessive Non-syndromic Hearing Impairment Locus DFNB63 to Chromosome 11q13.3-q13.4
| Autor: | Malika Drira, Houria Dhouib, Ilhem Charfedine, S. Bouaziz, H. Ayadi, I. Ben Rebeh, Jihen Chouchen, Abdelaziz Tlili, S. Masmoudi, Khalil Turki, Zeineb Benzina |
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| Rok vydání: | 2007 |
| Předmět: |
Male
Candidate gene Tunisia MYO7A Genes Recessive Locus (genetics) Biology Consanguinity otorhinolaryngologic diseases Genetics Humans Hearing Loss Gene Genetics (clinical) Genetic heterogeneity Chromosomes Human Pair 11 Haplotype Chromosome Mapping Pedigree Haplotypes Microsatellite Female Lod Score Non syndromic Microsatellite Repeats |
| Zdroj: | Annals of Human Genetics. 71:271-275 |
| ISSN: | 1469-1809 0003-4800 |
| DOI: | 10.1111/j.1469-1809.2006.00337.x |
| Popis: | Summary Hereditary hearing impairment is the most genetically heterogeneous trait known in humans. So far, 50 published autosomal recessive non-syndromic hearing impairment (ARNSHI) loci have been mapped, and 23 ARNSHI genes have been identified. Here, we report the mapping of a novel ARNSHI locus, DFNB63, to chromosome 11q13.3-q13.4 in a large consanguineous Tunisian family. A maximum LOD score of 5.33 was obtained with microsatellite markers D11S916 and D11S4207. Haplotype analysis defined a 5.55 Mb critical region between microsatellite markers D11S4136 and D11S4081. DFNB63 represents the sixth ARNSHI locus mapped to chromosome 11. We positionally excluded MYO7A from being the DFNB63-causative gene. In addition, the screening of two candidate genes, SHANK2 and KCNE3, failed to reveal any disease-causing mutations. |
| Databáze: | OpenAIRE |
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