Mutational analysis for GJB2, GJB6, and GJB3 genes in Campania within a universal neonatal hearing screening programme
| Autor: | Elio Marciano, Viviana Chinetti, Gennaro Auletta, Giorgio Lilli, Pasquale Riccardi, Francesca De Falco, Pasquale Giannini, Sandra Iossa, Maria De Luca, Rita Malesci, Virginia Corvino, Annamaria Franzè |
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| Přispěvatelé: | Chinetti, V, Iossa, S, Auletta, G, Corvino, V, De Luca, M, De Falco, F, Giannini, Pasquale, Lilli, G, Malesci, R, Riccardi, P, Marciano, Elio, Franze', Annamaria |
| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: |
Linguistics and Language
Pediatrics medicine.medical_specialty Hearing loss Hearing Loss Sensorineural Population DNA Mutational Analysis Audiology Language and Linguistics Hearing screening Connexins Speech and Hearing GJB6 Campania region Connexin 30 otorhinolaryngologic diseases Medicine Humans Mass Screening education Gene Genetic Association Studies Sequence Deletion education.field_of_study biology business.industry Incidence (epidemiology) Incidence Infant medicine.disease GJB3 GJB2 Mutational analysis Connexin 26 Italy biology.protein Sensorineural hearing loss medicine.symptom business E129K Universal neonatal hearing screening |
| Zdroj: | International journal of audiology (Online) 50(12) (2011): 866–870. doi:10.3109/14992027.2011.603757 info:cnr-pdr/source/autori:Chinetti V, Iossa S, Auletta G, Corvino V, De Luca M, De Falco F, Giannini P, Lilli G, Malesci R, Riccardi P, Marciano E, Franzè A./titolo:Mutational analysis for GJB2, GJB6, and GJB3 genes in Campania within a universal neonatal hearing screening programme/doi:10.3109%2F14992027.2011.603757/rivista:International journal of audiology (Online)/anno:2011/pagina_da:866/pagina_a:870/intervallo_pagine:866–870/volume:50(12) |
| DOI: | 10.3109/14992027.2011.603757 |
| Popis: | OBJECTIVE: To determine the incidence of GJB2 and GJB3 mutations and of two deletions upstream of the GJB6 gene in infants of the Campania region of southern Italy. DESIGN: DNA samples from non-syndromic hearing-impaired infants enrolled in a neonatal screening programme for sensorineural hearing loss were analysed by PCR and by direct sequencing. The audiological features of infants with biallelic GJB2 mutations were also examined to identify genotype-phenotype correlations. STUDY SAMPLE: Molecular analyses were carried out in 129 affected and five unaffected infants. RESULTS: A genetic etiology of hearing loss was identified in 28% of infants, including several at environmental risk of hearing loss. Neither GJB6 nor GJB3 (a gene not previously investigated in the Campania population) mutations were found. CONCLUSIONS: This study confirms the importance of universal neonatal hearing screening. The identification of a genetic cause in infants at environmental risk indicates that such infants should be included when investigating etiology. We confirm that also in our geographical area, c.35delG homozygotes tend to have severe symmetrical hearing loss, whereas hearing impairment is milder in compound heterozygotes. |
| Databáze: | OpenAIRE |
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