Background The development of next generation sequencing-based techniques showed an
important progress in the identification of pathogenic variants related to monogenetic …

Objectives To characterize the clinical features of a Chinese DFNA9 family associated with a
novel COCH mutation and to confirm the proposed genotype–phenotype correlation of …

Objective: To determine the prevalence and types of SLC26A4 mutations and the relevant
phenotypes in a series of Iranian deaf patients. Design: A descriptive laboratory study. Study …

Objective Hereditary hearing loss is a clinically and genetically heterogeneous disorder
associated with mutations of a large number of diverse genes. In this study we applied …

Objectives Mutations in DFNA 5 may lead to autosomal dominant non-syndromic
sensorineural hearing loss (NSHL). To date, only four DFNA 5 mutations have been …

Conclusions: This study demonstrated high prevalence of GJB2, SLC26A4, and mtDNA
A1555G mutations in Chinese patients with nonsyndromic hearing loss and discovered …

We report the genetic analysis of a Chinese family with autosomal dominant non‐syndromic
progressive sensorineural hearing loss. Taking advantage of next‐generation high …

Hearing loss is the most common sensory defect, due in most cases to a genetic origin.
Variants in the GJB2 gene are responsible for up to 30% of non-syndromic hearing loss …

Background: Nonsyndromic hearing loss (NSHL) is highly heterogeneous, in which more
than 90 causative genes have currently been identified. DFNA5 is one of the deafness …

Increasing attention has been directed toward assessing mutational fallout of stereocilin
(STRC), the gene underlying DFNB16. A major challenge is due to a closely linked …