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

A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss.

Clinical genetics - 1 Mar 2012

Yariz K O, Walsh T, Akay H, Duman D, Akkaynak A C, King M-C, Tekin M

Abstract excerpt

Hereditary deafness is a genetically heterogeneous phenotype for which more than 100 genomic loci have been identified thus far. By analysis of a consanguineous Palestinian family, GPSM2 was recently discovered to be the cause of autosomal recessive non-syndromic hearing loss DFNB82. Here, we report a second truncating mutation, GPSM2 p.Q562X, identified via autozygosity mapping in a consanguineous Turkish...

Read the complete abstract on PubMed

Topics

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

Share to Consanguinity
Share to Genes, Recessive
Share to Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hearing Loss

Share to Homozygote

Share to Intracellular Signaling Peptides and Proteins

Share to Polymorphism, Single Nucleotide

Share to Turkey

Source

Open in PubMed Open full text

Identifiers

PMID: 21348867
DOI: 10.1111/j.1399-0004.2011.01654.x
PMCID: PMC3657750

Genes

GPSM2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss.PMID 21348867Read ↗

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.Semantic proximity Read ↗

Chudley-McCullough Syndrome: Variable Clinical Picture in Twins with a Novel GPSM2 Mutation.Semantic proximity Read ↗

GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough SyndromeSemantic proximity Read ↗

GPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North America.Semantic proximity Read ↗

GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.Semantic proximity Read ↗

Novel, pathogenic insertion variant of GSDME associates with autosomal dominant hearing loss in a large Chinese pedigree.Semantic proximity Read ↗

GPSM2 mutations in Chudley-McCullough syndrome.Semantic proximity Read ↗

Chudley-McCullough Syndrome: A Novel Variant found in Two Siblings from a Libyan FamilySemantic proximity Read ↗

A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic Progressive DFNA68 Hearing Loss in a Spanish Family.Semantic proximity Read ↗

A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders.Semantic proximity Read ↗

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy.Semantic proximity Read ↗

A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family.Semantic proximity Read ↗

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