Sudden hearing loss in a family with GJB2 related progressive deafness
| Autor: | Maria Grigoriadou, Aglaia Giannoulia-Karantana, Elisabeth Ferekidou, Stavros Korres, Maria Theodosiou, George N. Korres, Michael B. Petersen, Haris Kokotas |
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| Rok vydání: | 2008 |
| Předmět: |
Adult
Male medicine.medical_specialty Hearing loss Deafness Audiology medicine.disease_cause Connexins Progressive deafness Young Adult otorhinolaryngologic diseases medicine Humans Young adult Mutation Greece business.industry Specific mutation Homozygote General Medicine Progressive hearing loss Hearing Loss Sudden Middle Aged medicine.disease Pedigree Connexin 26 Sudden Hearing Loss Otorhinolaryngology Pediatrics Perinatology and Child Health Disease Progression Female Sensorineural hearing loss medicine.symptom business |
| Zdroj: | International Journal of Pediatric Otorhinolaryngology. 72:1735-1740 |
| ISSN: | 0165-5876 |
| DOI: | 10.1016/j.ijporl.2008.08.006 |
| Popis: | Mutations of GJB2, the gene encoding connexin 26, have been associated with prelingual, sensorineural hearing loss of mild to profound severity. One specific mutation, the 35delG, has accounted for the majority of mutations detected in the GJB2 gene in Caucasian populations. Recent studies have described progression of hearing loss in a proportion of cases with GJB2 deafness. We report an unusual family with four 35delG homozygous members, in which the parents were deaf-mute whilst both children had a postlingual progressive hearing loss. Furthermore, the son suffered from sudden hearing loss. |
| Databáze: | OpenAIRE |
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