Comprehensive genetic testing has the potential to become the standard of care for
individuals with hearing loss. In this study, we investigated the genetic etiology of autosomal …

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

Identification of the pathogenic mutations underlying autosomal recessive nonsyndromic
hearing loss (ARNSHL) is difficult, since causative mutations in 39 different genes have so …

The mutation spectrum of deafness genes may vary in different ethnical groups. In this study,
we investigated the genetic etiology of nonsyndromic deafness in four consanguineous and …

Nonsyndromic hearing loss is an extremely heterogeneous disorder. Thus, clinical
diagnostics is challenging, in particular due to differences in the etiology of hearing loss …

Genetic causes of hearing loss are highly heterogeneous and often ethnically specific. In
recent years, a variety of next‐generation sequencing (NGS) panels have been developed …

Background Non-syndromic hearing loss (NSHL) is the most common sensory impairment in
humans. Until recently its extreme genetic heterogeneity precluded comprehensive genetic …

Hearing impairment not etiologically associated with clinical signs in other organs (non-
syndromic) is genetically heterogeneous, so that over 120 genes are currently known to be …

Objectives The frequency and spectrum of mutations in deafness-causing genes differs
significantly according to the ethnic population and region under investigation. The …

Hearing loss (HL) is a common sensory disorder in humans with high genetic heterogeneity.
To date, over 145 loci have been identified to cause nonsyndromic deafness. Furthermore …