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

Pietro Salvago, Francesco Martines, Sergio Ferrara, Francesco Martines, Pietro Sammarco, Caterina Bartolotta, Carmelo Fabiano, Salvatore Cocuzza

Risultato della ricerca: Article

14 Citazioni (Scopus)

Abstract

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 < 0.0001) resulted. This study confirms that 35delG is the most common mutation in the Mediterranean area with a heterogeneous distribution of the genotypes between North and South Sicily; probands homozygotes for 35delG or presenting a T/T genotype are more apt to have a severe-to-profound HL.
Lingua originaleEnglish
pagine (da-a)1857-1865
Numero di pagine9
RivistaEuropean Archives of Oto-Rhino-Laryngology
Volume272
Stato di pubblicazionePublished - 2014

All Science Journal Classification (ASJC) codes

  • Otorhinolaryngology

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