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

Segregation of Trans Mutations in the CDH23 Gene in an Emirati Family with Sensorineural Hearing Loss.

Genes - 10 Nov 2024

Alsebeyi Mariam, Mutery Abdullah Al, Tehsil Gul Mohammad, Tlili Abdelaziz

Abstract excerpt

BACKGROUND/OBJECTIVES: Hearing loss (HL) is a significant global health concern, affecting approximately 1 in every 1000 newborns, with over half of these cases attributed to genetic factors. This study focuses on identifying the genetic basis of autosomal recessive non-syndromic hearing loss (ARNSHL) in a consanguineous Emirati family. METHODS: Clinical exome sequencing (CES) was performed on affected members of...

Read the complete abstract on PubMed

Topics

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

Share to Cadherin Related Proteins
Share to Cadherins
Share to Codon, Nonsense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Consanguinity

Share to Exome Sequencing

Share to Hearing Loss, Sensorineural

Share to Mutation, Missense

Share to United Arab Emirates

Source

Open in PubMed Open full text

Identifiers

PMID: 39596651
DOI: 10.3390/genes15111451
PMCID: PMC11593428

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

Segregation of Trans Mutations in the CDH23 Gene in an Emirati Family with Sensorineural Hearing Loss.PMID 39596651Read ↗

Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss.Semantic proximity Read ↗

Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing.Semantic proximity Read ↗

Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss.Semantic proximity Read ↗

A Novel Cadherin 23 Variant for Hereditary Hearing Loss Reveals Additional Support for a DFNB12 Nonsyndromic Phenotype of CDH23.Semantic proximity Read ↗

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

A Novel Pathogenic Haplotype in CDH23 Causing DFNB12: The Combined Effect of Two Individually Benign VariantsSemantic proximity Read ↗

[Study on syndromic deafness caused by novel pattern of compound heterozygous variants in the CDH23 gene].Semantic proximity Read ↗

A novel variant in the CDH23 gene is associated with non-syndromic hearing loss in a Chinese family.Semantic proximity Read ↗

Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next-generation sequencing.Semantic proximity Read ↗

Identification of Known and Novel Genetic Variants in Sensorineural Hearing Loss: Insights from Whole Exome Sequencing in Indian FamiliesSemantic proximity Read ↗

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

Identification of novel CDH23 variants linked to hearing loss in a Chinese family: A case report.Semantic proximity Read ↗

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