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

First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene.

Journal of translational medicine - 26 Oct 2019

Oziębło Dominika, Sarosiak Anna, Leja Marcin L, Budde Birgit S, Tacikowska Grażyna, Di Donato Nataliya, Bolz Hanno J, Nürnberg Peter, Skarżyński Henryk, Ołdak Monika

Abstract excerpt

BACKGROUND: Biallelic PTPRQ pathogenic variants have been previously reported as causative for autosomal recessive non-syndromic hearing loss. In 2018 the first heterozygous PTPRQ variant has been implicated in the development of autosomal dominant non-syndromic hearing loss (ADNSHL) in a German family. The study presented the only, so far known, PTPRQ pathogenic variant (c.6881G>A) in ADNSHL. It is located in...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Genes, Dominant

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Hearing Loss, Sensorineural

Share to Heterozygote

Share to Mutant Proteins

Share to Peptide Chain Termination, Translational

Share to Poland

Share to Translational Research, Biomedical

Source

Open in PubMed Open full text

Identifiers

PMID: 31655630
DOI: 10.1186/s12967-019-2099-5
PMCID: PMC6815010

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene.PMID 31655630Read ↗

A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.Semantic proximity Read ↗

Detailed Clinical Features of PTPRQ-Associated Hearing Loss Identified in a Large Japanese Hearing Loss Cohort.Semantic proximity Read ↗

Identification of a novel compound heterozygous mutation in PTPRQ in a DFNB84 family with prelingual sensorineural hearing impairment.Semantic proximity Read ↗

Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family.Semantic proximity Read ↗

Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.Semantic proximity Read ↗

A Novel PTPRQ c.3697del Variant Causes Autosomal Dominant Progressive Hearing Loss in Both Humans and Mice.Semantic proximity Read ↗

A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss.Semantic proximity Read ↗

A Genome-First Approach to Rare Variants in Dominant Postlingual Hearing Loss Genes in a Large Adult Population.Semantic proximity Read ↗

Non-syndromic hearing loss gene identification: A brief history and glimpse into the future.Semantic proximity Read ↗

Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family.Semantic proximity Read ↗

Novel Pathogenic Variant of the TRRAP Gene Detected in a Hungarian Family with Autosomal Dominant Non-Syndromic Hearing LossSemantic proximity Read ↗

Delayed progressive sensorineural hearing loss due to a novel compound heterozygous PTPRQ mutation in a Chinese patient.Semantic proximity Read ↗

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