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 CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.

American journal of medical genetics. Part A - 1 Feb 2012

Lee Kwanghyuk, Ansar Muhammad, Andrade Paula B, Khan Bushra, Santos-Cortez Regie Lyn P, Ahmad Wasim, Leal Suzanne M

Abstract excerpt

Mutations in the CLDN14 gene are known to cause autosomal recessive (AR) non-sydromic hearing loss (NSHL) at the DFNB29 locus on chromosome 21q22.13. As part of an ongoing study to localize and identify NSHL genes, the ARNSHL segregating in four Pakistani consanguineous families were mapped to the 21q22.13 region with either established or suggestive linkage. Given the known involvement of CLDN14 gene in NSHL,...

Read the complete abstract on PubMed

Topics

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

Share to Claudins
Share to Genes, Recessive

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Linkage

Share to Hearing Loss

Share to Mutation

Share to Pakistan

Share to Pedigree

Share to Polymorphism, Single Nucleotide

Source

Open in PubMed Open full text

Identifiers

PMID: 22246673
DOI: 10.1002/ajmg.a.34407
PMCID: PMC3276114

Genes

CLDN14

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

Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.PMID 22246673Read ↗

Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population.Semantic proximity Read ↗

Genetic analysis of CLDN14 in the Chinese population affected with non-syndromic hearing loss.Semantic proximity Read ↗

Mutations in CLDN14 are associated with different hearing thresholds.Semantic proximity Read ↗

The Segregation of p.Arg68Ter-CLDN14 Mutation in a Syrian Deaf Family, Phenotypic Variations, and Comparative Analysis with the GJB2 Gene.Semantic proximity Read ↗

Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.Semantic proximity Read ↗

Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families.Semantic proximity Read ↗

Novel Mutations in CLPP, LARS2, CDH23, and COL4A5 Identified in Familial Cases of Prelingual Hearing Loss.Semantic proximity Read ↗

Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan.Semantic proximity Read ↗

Detailed Clinical Features of Deafness Caused by a Claudin-14 VariantSemantic proximity Read ↗

Delineation of Homozygous Variants Associated with Prelingual Sensorineural Hearing Loss in Pakistani Families.Semantic proximity Read ↗

Variants of human CLDN9 cause mild to profound hearing loss.Semantic proximity Read ↗

Identification of Hearing Loss-Associated Variants of PTPRQ, MYO15A, and SERPINB6 in Pakistani Families.Semantic proximity Read ↗

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