Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss

Viviana Chinetti; Sandra Iossa; Gennaro Auletta; Carla Laria; Maria De Luca; Francesca Di Leva; Pasquale Riccardi; Pasquale Giannini; Paolo Gasparini; Alfredo Ciccodicola; Elio Marciano; Annamaria Franzè

doi:10.3109/14992021003601756

Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss

Int J Audiol. 2010 Apr;49(4):326-31. doi: 10.3109/14992021003601756.

Authors

Viviana Chinetti¹, Sandra Iossa, Gennaro Auletta, Carla Laria, Maria De Luca, Francesca Di Leva, Pasquale Riccardi, Pasquale Giannini, Paolo Gasparini, Alfredo Ciccodicola, Elio Marciano, Annamaria Franzè

Affiliation

¹ CEINGE-Biotecnologie Avanzate, Naples, Italy.

PMID: 20233142
DOI: 10.3109/14992021003601756

Abstract

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.

MeSH terms

Acoustic Stimulation
Adolescent
Adult
Audiometry
Auditory Perception
Child
Child, Preschool
Connexin 26
Connexin 30
Connexins / genetics*
Genetic Predisposition to Disease
Genetic Testing*
Hearing Loss, Sensorineural / epidemiology
Hearing Loss, Sensorineural / genetics*
Hearing Loss, Sensorineural / physiopathology
Heterozygote
Homozygote
Humans
Italy / epidemiology
Mass Screening / methods*
Middle Aged
Mutation*
Phenotype
Risk Factors
Severity of Illness Index
Young Adult

Substances

Connexin 30
Connexins
GJB2 protein, human
GJB6 protein, human
Connexin 26