Hearing loss associated with 35delG mutation in Connexin-26 (GJB2) gene: audiogram analysis
| Autor: | L. Firrisi, Luca D'Ascanio, Fabrizio Salvinelli, Manuele Casale, Alfonso Baldi, F. Greco |
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| Rok vydání: | 2004 |
| Předmět: |
Adult
Male Heterozygote medicine.medical_specialty Adolescent Hearing loss Hearing Loss Sensorineural Connexin Audiology Congenital hearing loss Severity of Illness Index Connexins 35delg mutation otorhinolaryngologic diseases medicine Humans Child medicine.diagnostic_test business.industry Homozygote Heterozygote advantage General Medicine Audiogram Connexin 26 Phenotype Otorhinolaryngology Child Preschool Mutation (genetic algorithm) Audiometry Pure-Tone Female medicine.symptom Audiometry business Gene Deletion |
| Zdroj: | The Journal of Laryngology & Otology. 118:8-11 |
| ISSN: | 1748-5460 0022-2151 |
| DOI: | 10.1258/002221504322731547 |
| Popis: | 35delG is the most common mutation in the Connexin-26 gene, representing a major cause of autosomal recessive hearing loss. The aim of this study was to evaluate the relationship between the audiological phenotype and the 35delG mutation in 64 Sicilians with non-syndromic deafness. Pure-tone audiometry and a screening for 35delG mutation were performed. Audiograms were evaluated according to the classification of Liu and Xu. Thirteen homozygotes and nine heterozygotes for the investigated mutation were found. Symmetrical hearing loss was significantly (p=0.008) more common in homozygous subjects than in those without the Connexin-26 mutation. Profound-severe hypoacusia was found in 92.3 per cent of 35delG homozygous, 22.3 per cent of heterozygous and 58.7 per cent of 35delG absent patients. Residual shape audiograms were more frequent in homozygotes. A molecular analysis for the 35delG mutation should be performed in cases of symmetric, severe-profound congenital hearing loss, as a genetic cause is probable in such cases. |
| Databáze: | OpenAIRE |
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