A genotype–phenotype correlation in Sicilian patients with GJB2 biallelic mutations

The aim of this work was to study the genotype distribution of Sicilian patients with biallelic GJB2 mutations; to correlate genotype classes and/or specific mutations of GJB2 gene (35delG–non-35delG) with audiologic profiles. A total of 10 different mutations and 11 different genotypes were evidenc...

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Bibliographic Details
Published in:European archives of oto-rhino-laryngology 2015-08, Vol.272 (8), p.1857-1865
Main Authors: Martines, Francesco, Salvago, Pietro, Bartolotta, Caterina, Cocuzza, Salvatore, Fabiano, Carmelo, Ferrara, Sergio, La Mattina, Eleonora, Mucia, Marianna, Sammarco, Pietro, Sireci, Federico, Martines, Enrico
Format: Article
Language:English
Subjects:
Audiometry - methods
Child
Child, Preschool
Connexin 26
Connexins - genetics
Deafness - diagnosis
Deafness - epidemiology
Deafness - genetics
Female
Genetic Association Studies
Genotype
Head and Neck Surgery
Hearing Loss - genetics
Hearing Loss, Sensorineural - diagnosis
Hearing Loss, Sensorineural - epidemiology
Hearing Loss, Sensorineural - genetics
Humans
Male
Medicine
Medicine & Public Health
Mutation
Neurosurgery
Otology
Otorhinolaryngology
Severity of Illness Index
Sicily - epidemiology
Young Adult
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Summary:The aim of this work was to study the genotype distribution of Sicilian patients with biallelic GJB2 mutations; to correlate genotype classes and/or specific mutations of GJB2 gene (35delG–non-35delG) with audiologic profiles. A total of 10 different mutations and 11 different genotypes were evidenced in 73 SNHL subjects; 35delG (90.36 % of cases) and IVS1+1 (13.69 %) were the most common mutations found in the cohort with a significant difference in the distribution between North and South Sicily. Audiological evaluation revealed a severe (16/73) to profound (47/73) hearing loss (HL) in 86.13 % of cases without significant difference between the degree of HL and the province of origin of the subjects ( P  = 0.727). The homozygous truncating (T/T) genotype was the most widespread (89.04 % of cases), with a severe-to-profound hearing impairment in 90.36 % of T/T class with respect to truncating/non-truncating (T/NT) and non-truncating/non-truncating (NT/NT) genotypes ( P  = 0.012). From the comparison of homozygous 35delG and 35delG/non-35delG genotypes, a more profound HL in the homozygous 35delG than in compound heterozygous 35delG/non-35delG ( p  
ISSN:0937-4477
1434-4726
DOI:10.1007/s00405-014-2970-1