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

PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India.

Annals of human genetics - 1 Jan 2022

Vanniya S Paridhy, Chandru Jayasankaran, Jeffrey Justin Margret, Rabinowitz Tom, Brownstein Zippora, Krishnamoorthy Mathuravalli, Avraham Karen B, Cheng Le, Shomron Noam, Srisailapathy C R Srikumari

Abstract excerpt

The study was conducted between 2018 and 2020. From a cohort of 113 hearing impaired (HI), five non-DFNB12 probands identified with heterozygous CDH23 variants were subjected to exome analysis. This resolved the etiology of hearing loss (HL) in four South Indian assortative mating families. Six variants, including three novel ones, were identified in four genes: PNPT1 p.(Ala46Gly) and p.(Asn540Ser), MYO15A...

Read the complete abstract on PubMed

Topics

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

Share to Exoribonucleases
Share to Hearing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hearing Loss

Share to Hearing Loss, Sensorineural

Share to Mutation

Share to Myosins

Share to Pedigree

Source

Identifiers

PMID: 34374074
DOI: 10.1111/ahg.12442

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India.PMID 34374074Read ↗

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

Recurrent and Novel Pathogenic Variants in Genes Involved with Hearing Loss in the Pakistani Population.Semantic proximity Read ↗

Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITFSemantic proximity Read ↗

Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing lossSemantic proximity Read ↗

Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness.Semantic proximity Read ↗

Identification and Clinical Implications of Novel MYO15A Mutations in a Non-consanguineous Korean Family by Targeted Exome Sequencing.Semantic proximity Read ↗

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

[Genetic and phenotypic analysis of MYO15A rare variants associated with autosomal recessive hearing loss].Semantic proximity Read ↗

Analysis of the genotype-phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients.Semantic proximity Read ↗

Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.Semantic proximity Read ↗

Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF.Semantic proximity Read ↗

Whole exome sequencing identifies novel compound heterozygous pathogenic variants in the MYO15A gene leading to autosomal recessive non-syndromic hearing loss.Semantic proximity Read ↗

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