Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment.

BioMed research international - 1 Jan 2017

Gao Xue, Yuan Yong-Yi, Wang Guo-Jian, Xu Jin-Cao, Su Yu, Lin Xi, Dai Pu

Abstract excerpt

Autosomal recessive hearing impairment with postlingual onset is rare. Exceptions are caused by mutations in the TMPRSS3 gene, which can lead to prelingual (DFNB10) as well as postlingual deafness (DFNB8). TMPRSS3 mutations can be classified as mild or severe, and the phenotype is dependent on the combination of TMPRSS3 mutations. The combination of two severe mutations leads to profound hearing impairment with a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Audiometry
Share to Cochlear Implants

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Deafness

Share to Family

Share to Genes, Recessive

Share to Hearing Loss

Share to Mutant Proteins

Share to Serine Endopeptidases

Source

Open in PubMed Open full text

Identifiers

PMID: 28246597
DOI: 10.1155/2017/4707315
PMCID: PMC5303592

Genes

TMPRSS3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment.PMID 28246597Read ↗

Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population.Semantic proximity Read ↗

[Late-onset hereditary hearing loss caused by TMPRSS3 compound heterozygous mutations].Semantic proximity Read ↗

A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.Semantic proximity Read ↗

The Analysis of A Frequent TMPRSS3 Allele Containing P.V116M and P.V291L in A Cis Configuration among Deaf Koreans.Semantic proximity Read ↗

Genotype-Phenotype Correlations in TMPRSS3 (DFNB10/DFNB8) with Emphasis on Natural History.Semantic proximity Read ↗

Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.Semantic proximity Read ↗

TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.Semantic proximity Read ↗

Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings.Semantic proximity Read ↗

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.Semantic proximity Read ↗

Insights into the Pathobiology of TMPRSS3-Related Hearing Loss and Implications for Cochlear Implant Patients with TMPRSS3 Mutations.Semantic proximity Read ↗

An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss.Semantic proximity Read ↗

[Mutational analysis and prenatal diagnosis of TMPRSS3 gene in two Chinese families affected with deafness].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.