Distribution and phenotype of GJB2 mutations in 102 Sicilian patients with congenital non syndromic sensorineural hearing loss. (August 2014)

• Record Type: Journal Article
• Authors: Salvago, Pietro; Martines, Enrico; La Mattina, Eleonora; Mucia, Marianna; Sammarco, Pietro; Sireci, Federico; Martines, Francesco
• Is Part Of: International journal of audiology. Volume 53:Number 8(2014:Aug.)
• Page Start: 558
• Page End: 563
• Publication Date: 2014-08
• Subjects: Audiology -- Periodicals; Hearing disorders -- Periodicals; Deafness -- Prevention -- Periodicals; Hearing Disorders -- Periodicals; Hearing -- Periodicals; 617.8
• DOI: 10.3109/14992027.2014.905717
• Languages: English
• ISSNs: 1499-2027

Abstract

<abstract> <title>Abstract</title> <p> <italic>Objective:</italic> To evaluate the frequency of <italic>GJB2</italic> mutations and their correlation with phenotype in Sicilian non-syndromic sensorineural hearing loss (NSHL) patients. <italic>Design:</italic> Sequencing of the coding region, basal promoter, exon 1, and donor splice site of the <italic>GJB2</italic> gene; screening for the presence of the two common <italic>GJB6</italic> deletions. <italic>Study sample:</italic> A cohort of 102 Sicilian NSHL patients. <italic>Results:</italic> Fifteen different mutations in <italic>GJB2</italic> and seventeen different genotypes were detected. No <italic>GJB6</italic> mutations were found. The hearing impairment was profound in the 64.72% of probands (mean PTA<sub>0.25–4 kHz</sub> of 88.82 ± 26.52 dB HL). A total of 81.37% of patients harboured at least one c.35delG allele; c.167delT and c.-23 + 1G> A were identified in 10.78% and the 9.8% of patients respectively; c.35delG homozygotes presented more severe hearing impairment (75.59% of profound hearing loss) and a higher mean PTA<sub>0.25–4 kHz</sub> (96.79 ± 21.11 dB HL) with respect to c.35delG/non-c.35delG and c.35delG/Wt patients (P < 0.05). <italic>Conclusions:</italic> This work underlines the role of c.35delG, c.167delT and c.-23 + 1G> A as the most frequent causes of NSHL in Sicily. The c.35delG frequency found is similar to those reported in other populations of the Mediterranean area. The analysis of genetic and audiologic data confirmed a variability in the phenotype associated to a single genotype.</p> </abstract>