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autosomal dominant nonsyndromic hearing loss 68 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant nonsyndromic hearing loss 68

MONDO:0014740

Also known as:DFNA68HOMER2 autosomal dominant nonsyndromic deafnessautosomal dominant deafness 68

Overview

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the HOMER2 gene.

GeneticsAutosomal dominant · HOMER2 (chr 15)

OnsetJUVENILE

ResearchLimited published research (1 article)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Inner ear hearing loss (sensorineural hearing impairment).

Organ System	Phenotype Count	Example Features
Ears	1	Inner ear hearing loss (sensorineural hearing impairment)

Age of onset: adolescence.

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

HOMER2 encodes homer scaffold protein 2 (354 aa). Postsynaptic density scaffolding protein. Binds and cross-links cytoplasmic regions of GRM1, GRM5, ITPR1, DNM3, RYR1, RYR2, SHANK1 and SHANK3. Highest expression in Pancreas (24.0 TPM) and Minor Salivary Gland (20.2 TPM).

Autosomal dominant nonsyndromic hearing loss 68 is associated with mutations in the HOMER2 gene on chromosome 15.

HOMER2 is classified as a druggable target (Kinase category) with score 0.0.

Diagnosis

Genetic testing for HOMER2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for autosomal dominant nonsyndromic hearing loss 68.

2 publications have been identified in PubMed for autosomal dominant nonsyndromic hearing loss 68. Kisho has analyzed 1 by research type. Research spans Basic Science / Preclinical (100%).

Recent Publications

Peng LT (2026). [PMID: 41351289](https://pubmed.ncbi.nlm.nih.gov/41351289/). *J Clin Lab Anal*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:33 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616707

GARD

Genetic and Rare Diseases Info Center

GARD:18144

Questions for Your Care Team

→Should I pursue genetic testing for HOMER2, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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autosomal dominant nonsyndromic hearing loss 68

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team