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

Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss.

The journal of international advanced otology - 27 Mar 2024

Markova Tatiana G, Alekseeva Natalia N, Ryzhkova Oxana P, Shatokhina Olga L, Orlova Anna A, Zabnenkova Viktoriia V, Groznova Olga S, Sagaydak Olesya V, Chibisova Svetlana S, Polyakov Alexander V, Tavartkiladze George A

Abstract excerpt

Autosomal dominant hearing loss is represented by a large number of genetically determined forms. Over 50 genes associated with dominant nonsyndromic hearing impairments were described. Pathogenic variants in the CEACAM16 gene lead to the development of DFNA4B hearing loss. Currently, 8 pathogenic variants in this gene have been described. The objective of this study was to study the audiological and molecular...

Read the complete abstract on PubMed

Topics

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

Share to Antigens, CD
Share to Cell Adhesion Molecules

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Deafness

Share to Genes, Dominant

Share to GPI-Linked Proteins

Share to Hearing Loss, Sensorineural

Share to Mutation, Missense

Share to Russia

Source

Open in PubMed Open full text

Identifiers

PMID: 39157884
DOI: 10.5152/iao.2024.231252
PMCID: PMC11114206

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss.PMID 39157884Read ↗

[Identification of a novel mutation of CEACAM16 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss].Semantic proximity Read ↗

Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family.Semantic proximity Read ↗

Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment.Semantic proximity Read ↗

Identification of I411K, a novel missense EYA4 mutation causing autosomal dominant non‑syndromic hearing loss.Semantic proximity Read ↗

Identification of a novel mutation of EYA4 in a Chinese family with delayed nonsyndromic hearing loss and analysis of molecular epidemiology of EYA4 mutationsSemantic proximity Read ↗

Identification of a novel EYA4 likely pathogenic variant in a Chinese family with postlingual non-syndromic hearing loss and analysis of molecular epidemiology of EYA4 variants.Semantic proximity Read ↗

Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants.Semantic proximity Read ↗

Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness.Semantic proximity Read ↗

Prevalence and clinical features of hearing loss caused by EYA4 variants.Semantic proximity Read ↗

Targeted Next-Generation Sequencing Identified Compound Heterozygous Mutations in MYO15A as the Probable Cause of Nonsyndromic Deafness in a Chinese Han Family.Semantic proximity Read ↗

A novel EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype-phenotype review of EYA4 in deafness.Semantic proximity Read ↗

Prevalence and Clinical Features of Autosomal Dominant and Recessive TMC1-Associated Hearing Loss.Semantic proximity Read ↗

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