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UnknownEvidence for genotype-phenotype correlation for OTOF mutations.

Objectives

The aim of this study is to evaluate the auditory phenotype in subjects with OTOF gene mutations to describe genotype-phenotype correlations.

Methods

Twenty-two affected members from three families with homozygous OTOF mutations were included. Nine subjects were evaluated a...
S-EPMC4066206 | biostudies-literature
UnknownA truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss.
While the importance of tight junctions in hearing is well established, the role of Claudin- 9 (CLDN9), a tight junction protein, in human hearing and deafness has not been explored. Through whole-genome sequencing, we identified a one base pair deletion (c.86delT) in CLDN9 in a consanguineous famil...
S-EPMC6745279 | biostudies-literature
UnknownDysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss.
We have identified a GRAP variant (c.311A>T; p.Gln104Leu) cosegregating with autosomal recessive nonsyndromic deafness in two unrelated families. GRAP encodes a member of the highly conserved growth factor receptor-bound protein 2 (GRB2)/Sem-5/drk family of proteins, which are involved...
S-EPMC6347722 | biostudies-literature
UnknownFAM65B is a membrane-associated protein of hair cell stereocilia required for hearing.
In a large consanguineous Turkish kindred with recessive nonsyndromic, prelingual, profound hearing loss, we identified in the gene FAM65B (MIM611410) a splice site mutation (c.102-1G>A) that perfectly cosegregates with the phenotype in the family. The mutation leads to exon skipping and deletion of...
S-EPMC4103326 | biostudies-literature
UnknownROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice.
Hair cells of the inner ear, the mechanosensory receptors, convert sound waves into neural signals that are passed to the brain via the auditory nerve. Little is known about the molecular mechanisms that govern the development of hair cell-neuronal connections. We ascertained a family with autosomal...
S-EPMC4889368 | biostudies-literature
UnknownA truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.
More than 270 million people worldwide have hearing loss that affects normal communication. Although astonishing progress has been made in the identification of more than 50 genes for deafness during the past decade, the majority of deafness genes are yet to be identified. In this study, we mapped a...
S-EPMC2869020 | biostudies-literature
UnknownVariations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss.
The genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is characterized by a high degree of genetic heterogeneity. We analyzed whole exome sequencing data of 102 unrelated probands with apparently NSHL without a causative variant in known NSHL genes. We detected five causative va...
S-EPMC4999867 | biostudies-literature
UnknownMutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.
Hereditary hearing loss is characterized by a high degree of genetic heterogeneity. Here we present OTOGL mutations, a homozygous one base pair deletion (c.1430 delT) causing a frameshift (p.Val477Glufs(∗)25) in a large consanguineous family and two compound heterozygous mutations, c.547C>T (p.Arg18...
S-EPMC3487139 | biostudies-literature
UnknownSLITRK6 mutations cause myopia and deafness in humans and mice.
Myopia is by far the most common human eye disorder that is known to have a clear, albeit poorly defined, heritable component. In this study, we describe an autosomal-recessive syndrome characterized by high myopia and sensorineural deafness. Our molecular investigation in 3 families led to the iden...
S-EPMC3635725 | biostudies-literature
UnknownComprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.

Purpose

Autosomal recessive nonsyndromic deafness (ARNSD) is characterized by a high degree of genetic heterogeneity, with reported mutations in 58 different genes. This study was designed to detect deafness-causing variants in a multiethnic cohort with ARNSD by using whole-exome sequencing ...
S-EPMC4733433 | biostudies-literature
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