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Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MCM2 gene.
Features include always present findings: Progressive sensorineural hearing impairment. 2 total HPO annotations.
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:02 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Phenotype Count |
|---|
Example Features |
|---|
Ears | 2 | Abnormal vestibular function, Progressive sensorineural hearing impairment |
MCM2 encodes minichromosome maintenance complex component 2 (904 aa). Acts as a component of the MCM2-7 complex (MCM complex) which is the replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. Highest expression in Cells EBV-transformed lymphocytes (137.4 TPM) and Testis (24.9 TPM).
Autosomal dominant nonsyndromic hearing loss 70 is associated with mutations in the MCM2 gene on chromosome 3.
The MCM2 protein participates in MITF-M-dependent MCM2 gene expression, MCM2-7 mediated fork unwinding, and CDT1-mediated loading of MCM2-7 to replication origins pathways.
MCM2 is classified as a druggable target (Enzyme and Kinase categories) with score 0.0.
Genetic testing for MCM2 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for autosomal dominant nonsyndromic hearing loss 70 has been reported in the published literature.
Phenotype severity distribution: 1 always present feature.
No clinical trials have been registered for autosomal dominant nonsyndromic hearing loss 70.
1 publication has been identified in PubMed for autosomal dominant nonsyndromic hearing loss 70. Research spans Diagnostic / Biomarker (100%).
DeSollar B (2026). [PMID: 41979979](https://pubmed.ncbi.nlm.nih.gov/41979979/). *JMIR Bioinform Biotechnol*. [Diagnostic / Biomarker]