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

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

Genes - 12 Apr 2024

Sakuma Naoko, Nishio Shin-Ya, Goto Shin-Ichi, Honkura Yohei, Oda Kiyoshi, Takeda Hidehiko, Kobayashi Marina, Kumakawa Kozo, Iwasaki Satoshi, Takahashi Masahiro, Ito Taku, Arai Yasuhiro, Isono Yasuhiro, Obara Natsuko, Matsunobu Takeshi, Okubo Kimihiro, Usami Shin-Ichi

Abstract excerpt

The PTPRQ gene has been identified as one of the genes responsible for non-syndromic sensorineural hearing loss (SNHL), and assigned as DFNA73 and DFNB84. To date, about 30 causative PTPRQ variants have been reported to cause SNHL. However, the detailed clinical features of PTPRQ-associated hearing loss (HL) remain unclear. In this study, 15,684 patients with SNHL were enrolled and genetic analysis was performed...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cohort Studies

Share to East Asian People

Share to Hearing Loss, Sensorineural

Share to High-Throughput Nucleotide Sequencing

Share to Infant

Source

Open in PubMed Open full text

Identifiers

PMID: 38674423
DOI: 10.3390/genes15040489
PMCID: PMC11050587

Genes

PTPRQ

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Detailed Clinical Features of PTPRQ-Associated Hearing Loss Identified in a Large Japanese Hearing Loss Cohort.PMID 38674423Read ↗

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

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

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

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

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

Molecular diagnose of a large hearing loss population from China by targeted genome sequencing.Semantic proximity Read ↗

Comprehensive analysis of syndromic hearing loss patients in JapanSemantic proximity Read ↗

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

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

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

OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patientsSemantic proximity Read ↗

Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient CohortSemantic proximity Read ↗

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