GJB2 (connexin 26) mutations are not a major cause of hearing loss in the Indonesian population
| Autor: | Rikkert L. Snoeckx, Paul Van de Heyning, Guy Van Camp, Lut Van Laer, Bulantrisna Djelantik |
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| Rok vydání: | 2005 |
| Předmět: |
Adult
Adolescent Hearing loss DNA Mutational Analysis Population Mutation Missense Connexin Biology medicine.disease_cause Connexins otorhinolaryngologic diseases Genetics medicine Humans Missense mutation Child Hearing Loss education Gene Pathological Genetics (clinical) Mutation education.field_of_study DNA medicine.disease Connexin 26 Indonesia Sensorineural hearing loss medicine.symptom |
| Zdroj: | American journal of medical genetics : part A |
| ISSN: | 1552-4833 1552-4825 |
| Popis: | Although hereditary hearing loss is a very heterogeneous disorder, variants in one gene, GJB2 (connexin 26), account for up to 50% of autosomal recessive nonsyndromal sensorineural hearing loss in most populations. This study investigates the contribution of GJB2 to autosomal recessive nonsyndromal hearing loss in the Indonesian population. We performed DNA sequence analysis in 120 patients with profound early childhood nonsyndromal hearing loss and in 100 control individuals and identified three novel variations resulting in amino acid substitutions (p.Gly4Asp, p.Thr5Ala, and p.Gly160Arg). Although we proved that p.Gly4Asp was not disease-causing, the pathological nature of p.Thr5Ala and p.Gly160Arg could not be determined. No recurrent disease-causing mutation could be detected in this Indonesian population. These findings are in contrast with the results obtained in other populations where GJB2 is a major cause of congenital recessive hearing loss. |
| Databáze: | OpenAIRE |
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