Over the past decade, advancements in high-throughput sequencing have greatly enhanced
our knowledge of the mutational signatures responsible for hereditary hearing loss. In its …

Nonsyndromic hearing loss (NSHL), a common sensory disorder, is characterized by high
clinical and genetic heterogeneity (ie, approximately 115 genes and 170 loci so far …

Hereditary hearing loss is clinically and genetically heterogeneous. There are presently over
120 genes that have been associated with non-syndromic hearing loss and many more that …

Deafness in vertebrates is associated with variants of hundreds of genes. Yet, many mutant
genes causing rare forms of deafness remain to be discovered. A consanguineous Pakistani …

The fimbrin protein family contains a variety of proteins, among which Plastin1 (PLS1) is an
important member. According to recent studies, variations in the coding region of the PLS1 …

Background: Hearing loss remains an important global health problem that is potentially
addressed through early identification of a genetic etiology, which helps to predict outcomes …

Auditory reception relies on the perception of mechanical stimuli by stereocilia and its
conversion to electrochemical signal. Mechanosensory stereocilia are abundant in actin …

Cochleovestibular dysfunctions are rare conditions misrecognized. A homozygous
pathogenic variation c. 1561C> T (p. Arg521*) in RIPOR2 (RHO family interacting cell …

Abstract Background The Roma are a European ethnic minority threatened by several
recessive diseases. Variants in MANBA cause a rare lysosomal storage disorder named …

Objectives The molecular etiology of non-syndromic hearing loss (NSHL) in Southeastern
China (Fujian) has not been precisely identified. our study selected patients with NSHL and …