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

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

PloS one - 1 Jan 2015

Gao Xue, Su Yu, Chen Yu-Lan, Han Ming-Yu, Yuan Yong-Yi, Xu Jin-Cao, Xin Feng, Zhang Mei-Guang, Huang Sha-Sha, Wang Guo-Jian, Kang Dong-Yang, Guan Li-Ping, Zhang Jian-Guo, Dai Pu

Abstract excerpt

Mutations in PTPRQ are associated with deafness in humans due to defects of stereocilia in hair cells. Using whole exome sequencing, we identified responsible gene of family 1572 with autosomal recessively non-syndromic hearing loss (ARNSHL). We also used DNA from 74 familial patients with ARNSHL and 656 ethnically matched control chromosomes to perform extended variant analysis. We identified two novel compound...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Exome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family

Share to Genes, Recessive

Share to Hearing Loss

Share to Heterozygote

Share to Models, Molecular

Share to Mutant Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 25919374
DOI: 10.1371/journal.pone.0124757
PMCID: PMC4412678

Genes

PTPRQ

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

Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family.PMID 25919374Read ↗

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

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

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

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

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

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

Autosomal recessive non-syndromic hearing loss is caused by novel compound heterozygous mutations in TMC1 from a Tibetan 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 ↗

Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.Semantic proximity Read ↗

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

Targeted next-generation sequencing and parental genotyping in sporadic Chinese Han deaf patients.Semantic proximity Read ↗

Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing loss.Semantic proximity Read ↗

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