Objectives/Hypothesis To perform a systematic review of GJB2‐associated hearing loss to
describe genotype distributions and auditory phenotype. Data Sources 230 primary studies …

Objective: The mutation spectrum of the GJB2 and SLC26A4 genes, the 2 most common
genes causing deafness, are known to be ethnic specific. In this study, the spectrum of the …

Hearing loss is the most common sensory deficit in humans, affecting 1 in 500 newborns.
Due to its genetic heterogeneity, comprehensive diagnostic testing has not previously been …

Background Countries with culturally accepted consanguinity provide a unique resource for
the study of rare recessively inherited genetic diseases. Although hereditary hearing loss …

Hearing loss (HL) is the most common birth defect and the most prevalent sensorineural
condition worldwide. It is associated with more than 1,000 mutations in at least 90 genes …

Objectives: The aims of the study were to determine the prevalence, types and socio-
economic correlates of consanguineous marriages in Iran, and to gauge the extent to which …

Results A total of three different mutations were determined. Two of which [c. 35delG and c.-
23+ 1G> A (IVS1+ 1G> A)] were previously reported but (c. 299-300delAT) mutation was …

A significant contribution to the causes of hereditary hearing impairment comes from genetic
factors. More than 120 genes and 160 loci have been identified to be involved in hearing …

Pathogenic variants in the GJB2 gene, encoding connexin 26, are known to be a major
cause of hearing impairment (HI). More than 300 allelic variants have been identified in the …

Autosomal-recessive genes are responsible for about 80% of the hereditary non-syndromic
hearing loss (NSHL) cases. In Iran, due to consanguineous marriages, NSHL is the second …