Search results for " GJB2"
showing 4 items of 4 documents
Distribution and phenotype ofGJB2mutations in 102 Sicilian patients with congenital non syndromic sensorineural hearing loss
2014
Objective: To evaluate the frequency of GJB2 mutations and their correlation with phenotype in Sicilian non-syndromic sensorineural hearing loss (NSHL) patients. Design: Sequencing of the coding region, basal promoter, exon 1, and donor splice site of the GJB2 gene; screening for the presence of the two common GJB6 deletions. Study sample: A cohort of 102 Sicilian NSHL patients. Results: Fifteen different mutations in GJB2 and seventeen different genotypes were detected. No GJB6 mutations were found. The hearing impairment was profound in the 64.72% of probands (mean PTA 0.25 – 4 kHz 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…
Identification of D179H, a novel missense GJB2 mutation in a Western Sicily family
2013
The main purpose of this study was to describe a novel missense mutation (p.D179H) found in a Western Sicily family and to examine the genetic and audiologic profiles of all family members by performing a GJB2 and GJB6 mutations analysis and a complete audiologic assessment. The proband was a 3-month-old infant with a congenital profound sensorineural hearing loss; direct sequencing of the GJB2 revealed the presence of a c.35delG mutation in the heterozygous state and a heterozygous G[C transition at nucleotide 535 in trans; this novel mutation, called p.D179H, resulted in an aspartic acid to histidine change at codon 179. It was also evidenced in the heterozygous state in two members of th…
Una Combinazione di Due Mutazioni Recessive nel Gene della Connexina 26 causa un quadro di Sordità Neurosensoriale Non Sindromica.
2005
La sordità geneticamente trasmessa ha assunto nell’ultimo decennio una rilevanza clinica per l’elevata frequenza dei probandi (circa 1 su 1000 nati vivi) e la cospicua prevalenza dei portatori sani (1 su 34). Nel presente studio abbiamo analizzato il gene GjB2 (connexina 26) di un bambino maschio siciliano con una sordità bilaterale (DFNB). Il gene connexina 26 del propositus, presenta due mutazioni (M34T e L90P) ognuna delle quali poste negli alleli omologhi. La combinazione di tali mutazioni genera una alterata funzione del fenotipo connexina 26, pertanto si spiega la comparsa della malattia nel propositus.