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autosomal dominant nonsyndromic hearing loss 27 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant nonsyndromic hearing loss 27

MONDO:0012902

Also known as:DFNA27autosomal dominant deafness 27autosomal dominant nonsyndromic deafness 27

Overview

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.1.

GeneticsAutosomal dominant · REST (chr 4)

OnsetJUVENILE

ResearchLimited published research (4 articles)

Clinical Presentation

Features include: 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

REST function has not been fully characterized.

Autosomal dominant nonsyndromic hearing loss 27 is associated with mutations in the REST gene on chromosome 4.

Diagnosis

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

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 27.

4 publications have been identified in PubMed for autosomal dominant nonsyndromic hearing loss 27. Research spans Review / Meta-Analysis (25%), Case Report / Case Series (25%), and Basic Science / Preclinical (25%).

Recent Publications

Simmons JH (2025). [PMID: 40222603](https://pubmed.ncbi.nlm.nih.gov/40222603/). *Bone*. [Case Report / Case Series]
Otsuka S (2025). [PMID: 39858604](https://pubmed.ncbi.nlm.nih.gov/39858604/). *Genes (Basel)*. [Basic Science / Preclinical]
Bernardinelli E (2025). [PMID: 40121402](https://pubmed.ncbi.nlm.nih.gov/40121402/). *Mol Med*. [Epidemiology / Natural History]
Jang SH (2024). [PMID: 39609929](https://pubmed.ncbi.nlm.nih.gov/39609929/). *Genomics Inform*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 8:03 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612431

GARD

Genetic and Rare Diseases Info Center

GARD:18128

Questions for Your Care Team

→Should I pursue genetic testing for REST, 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 27

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team