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.
Chinetti
Viviana
V
CEINGE-Biotecnologie Avanzate, Naples, Italy.
Iossa
Sandra
S
Auletta
Gennaro
G
Laria
Carla
C
De Luca
Maria
M
Di Leva
Francesca
F
Riccardi
Pasquale
P
Giannini
Pasquale
P
Gasparini
Paolo
P
Ciccodicola
Alfredo
A
Marciano
Elio
E
Franzè
Annamaria
A
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