Due to the high genetic heterogeneity of hearing loss (HL), current clinical testing includes
sequencing large numbers of genes, which often yields a significant number of novel …

Congenital hearing loss is the most common birth defect, estimated to affect 2‐3 in every
1000 births. Currently there is no cure for hearing loss. Treatment options are limited to …

Abstract According to the World Health Organization, hearing loss affects over 466 million
people worldwide and is the most common human sensory impairment. It is estimated that …

Abstract Background The 2015 American College of Medical Genetics and Genomics
(ACMG) and the Association for Molecular Pathology (AMP) guidelines for clinical sequence …

Enlarged vestibular aqueduct (EVA) is one of the most commonly identified inner ear
malformations in hearing loss patients including Pendred syndrome. While biallelic …

Pendrin and prestin are evolutionary-conserved membrane proteins that are essential for
normal hearing. Dysfunction of these proteins results in hearing loss in humans, and …

Mammalian SLC26 proteins are membrane-based anion transporters that belong to the
large SLC26/SulP family, and many of their variants are associated with hereditary diseases …

Rare diseases are those that have a low prevalence in the population (less than 5
individuals per 10,000 inhabitants). However, infrequent pathologies affect a large number …

Thanks to the advent of rapid DNA sequencing technology and its prevalence, many
disease‐associated genetic variants are rapidly identified in many genes from patient …

Connexins are gap junction components that are essential for acquiring normal hearing
ability. Up to 50% of congenital, autosomal-recessive, non-syndromic deafness can be …