Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss.
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.
CEINGE-Biotecnologie Avanzate, Naples, Italy.
Viviana
V
Chinetti
Sandra
S
Iossa
Gennaro
G
Auletta
Carla
C
Laria
Maria
M
De Luca
Francesca
F
Di Leva
Pasquale
P
Riccardi
Pasquale
P
Giannini
Paolo
P
Gasparini
Alfredo
A
Ciccodicola
Elio
E
Marciano
Annamaria
A
Franzè
D000161:Acoustic Stimulation; D000293:Adolescent; D000328:Adult; D001299:Audiometry; D001307:Auditory Perception; D002648:Child; D002675:Child, Preschool; D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006319:Hearing Loss, Sensorineural / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008403:Mass Screening / Q000379:methods*; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D012307:Risk Factors; D012720:Severity of Illness Index; D055815:Young Adult
D000075302:Connexin 30; D017630:Connexins; C000607042:GJB2 protein, human; C491020:GJB6 protein, human; D000072259:Connexin 26