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autosomal dominant nonsyndromic hearing loss 28 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant nonsyndromic hearing loss 28

MONDO:0012083

Also known as:DFNA28GRHL2 autosomal dominant nonsyndromic deafnessautosomal dominant deafness 28

Overview

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GRHL2 gene.

GeneticsAutosomal dominant · GRHL2 (chr 8)

ResearchLimited published research (8 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)

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.

GRHL2 encodes grainyhead like transcription factor 2 (625 aa). Transcription factor playing an important role in primary neurulation and in epithelial development. Highest expression in Skin Not Sun Exposed Suprapubic (41.4 TPM) and Skin Sun Exposed Lower leg (39.8 TPM).

Autosomal dominant nonsyndromic hearing loss 28 is associated with mutations in the GRHL2 gene on chromosome 8.

The GRHL2 protein participates in Positive Regulation of CDH1 Gene Transcription pathway.

GRHL2 is classified as a druggable target (Enzyme and Transcription Factor categories) with score 0.0.

Diagnosis

Genetic testing for GRHL2 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 28.

8 publications have been identified in PubMed for autosomal dominant nonsyndromic hearing loss 28. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (25%).

Recent Publications

Bazazzadegan N (2025). [PMID: 40001331](https://pubmed.ncbi.nlm.nih.gov/40001331/). *Arch Iran Med*. [Case Report / Case Series]
Guan J (2025). [PMID: 40068948](https://pubmed.ncbi.nlm.nih.gov/40068948/). *Yi Chuan*. [Basic Science / Preclinical]
Wu J (2025). [PMID: 41225453](https://pubmed.ncbi.nlm.nih.gov/41225453/). *BMC Pediatr*. [Review / Meta-Analysis]
Xue J (2024). [PMID: 39358765](https://pubmed.ncbi.nlm.nih.gov/39358765/). *BMC Med Genomics*. [Case Report / Case Series]
Reichenberger EJ (2024). [PMID: 39165910](https://pubmed.ncbi.nlm.nih.gov/39165910/). *JBMR Plus*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608641

GARD

Genetic and Rare Diseases Info Center

GARD:18124

Questions for Your Care Team

→Should I pursue genetic testing for GRHL2, 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 28

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