Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss
| Autor: | Carla Laria, Pasquale Riccardi, Elio Marciano, Annamaria Franzè, Gennaro Auletta, Maria De Luca, Pasquale Giannini, Alfredo Ciccodicola, Paolo Gasparini, Francesca Di Leva, Viviana Chinetti, Sandra Iossa |
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| Přispěvatelé: | Chinetti, V, Iossa, Sandra, Auletta, Gennaro, Laria, Carla, DE LUCA, Maria, DI LEVA, Francesca, Riccardi, Pasquale, Giannini, Pasquale, Gasparini, P, Ciccodicola, A, Marciano, Elio, Franze', Annamaria, Iossa, S, Auletta, G, Laria, C, De Luca, M, Leva, Fd, Riccardi, P, Giannini, P, Gasparini, Paolo, Marciano, E, Franzè, A. |
| Rok vydání: | 2010 |
| Předmět: |
Adult
Linguistics and Language medicine.medical_specialty Heterozygote Adolescent Hearing loss Hearing Loss Sensorineural Gene mutation Audiology Severity of Illness Index Language and Linguistics Connexins Speech and Hearing Gjb2 gene Young Adult GJB6 Campania Region Audiometry Risk Factors medicine otorhinolaryngologic diseases Connexin 30 Humans Mass Screening In patient Genetic Predisposition to Disease Genetic Testing Child biology business.industry Homozygote Middle Aged medicine.disease GJB2 Connexin 26 Phenotype Acoustic Stimulation Italy Child Preschool Mutation biology.protein Auditory Perception Sensorineural hearing loss medicine.symptom Southern Italy business Hearing lo |
| Zdroj: | International journal of audiology (Online) 49 (2010): 326–331. doi:10.3109/14992021003601756 info:cnr-pdr/source/autori:Chinetti V.; Iossa S.; Auletta G.; Laria C.; De Luca M.; Di Leva F.; Riccardi P.; Giannini P.; Gasparini P.; Ciccodicola A.; Marciano E.; Franzè A./titolo:Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss/doi:10.3109%2F14992021003601756/rivista:International journal of audiology (Online)/anno:2010/pagina_da:326/pagina_a:331/intervallo_pagine:326–331/volume:49 |
| ISSN: | 1708-8186 |
| DOI: | 10.3109/14992021003601756 |
| Popis: | The aim of this study was to screen 349 patients affected by sensorineural hearing loss (SNHL), mostly from the Campania region (southern Italy), for GJB2 gene mutations and for two deletions of the GJB6 gene (del GJB6 -D13S1830 and del GJB6 -D13S1854). We identified pathogenetic GJB2 mutations in 51 cases (15% of patients). No GJB6 mutation was found. We also examined the audiologic features of the patients for whom we had an etiologic diagnosis, in order to identify correlations between the severity of hearing loss and the type of mutation.SumarioEl objetivo de este estudio fue evaluar 349 pacientes afecta-dos de una hipoacusia sensorineural (SNHL), sobre todo de la region de Campania (Italia del sur), buscando muta-ciones en el gen GJB2 y dos deleciones en el gen GJB6 (del GJB6-D13S1830 y del GJB6-13S1854). Identifica-mos mutaciones patogenicas en 51 pacientes (15% de los pacientes). No se encontraron mutaciones del gen GJB6. Tambien examinamos los rasgos audiologicos de aquellos pacientes de q... |
| Databáze: | OpenAIRE |
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