Article

Biallelic mutation of <i>CLRN2</i> causes non-syndromic hearing loss in humans

2020-07-29

Abstract excerpt

Deafness, the most frequent sensory deficit in humans, is extremely heterogenous with hundreds of genes probably involved. Clinical and genetic analyses of an extended consanguineous family with pre-lingual, moderate-to-profound autosomal recessive sensorineural hearing loss, allowed us to identify CLRN2 , encoding a tetraspan protein as a new deafness gene. Homozygosity mapping followed by exome sequencing ident...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 22859acf-a31d-525d-91e8-e81110fca5e3
DOI: 10.1101/2020.07.29.222828

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Biallelic mutation of <i>CLRN2</i> causes non-syndromic hearing loss in humansDOI 10.1101/2020.07.29.222828Read

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.Semantic proximity Read

Compensatory Interplay Between Clarin-1 and Clarin-2 Deafness-Associated Proteins Governs Phenotypic Variability in Hearing.Semantic proximity Read

The Segregation of p.Arg68Ter-CLDN14 Mutation in a Syrian Deaf Family, Phenotypic Variations, and Comparative Analysis with the GJB2 Gene.Semantic proximity Read

Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy.Semantic proximity Read

Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans.Semantic proximity Read

Compound heterozygous variants in SPNS2 cause sensorineural hearing loss.Semantic proximity Read

Variants of human CLDN9 cause mild to profound hearing loss.Semantic proximity Read

Comprehensive simulation and interpretation of single nucleotide substitutions in <i>GJB2</i> reveals the genetic and phenotypic landscape of <i>GJB2</i> -related hearing lossSemantic proximity Read

A frameshift mutation in GRXCR2 causes recessively inherited hearing loss.Semantic proximity Read

Characterization of a novel variant in the HR1 domain of <i>MFN2</i> in a patient with ataxia, optic atrophy and sensorineural hearing lossSemantic proximity Read

Expanding Genotype-Phenotype Correlation of CLCNKA and CLCNKB Variants Linked to Hearing Loss.Semantic proximity Read

Heterozygous variants in transmembrane channel-like 1 gene cause autosomal recessive nonsyndromic hearing loss.Semantic proximity Read