Features include always present findings: Premature graying of hair; and very common findings: Inner ear hearing loss (sensorineural hearing impairment) and Numerous pigmented freckles. 13 total HPO annotations.

Age of onset: at birth.

MITF encodes melanocyte inducing transcription factor (526 aa). Transcription factor that acts as a master regulator of melanocyte survival and differentiation as well as melanosome biogenesis. Highest expression in Cervix Ectocervix (70.8 TPM) and Cervix Endocervix (58.0 TPM).

Waardenburg syndrome type 2A is associated with mutations in the MITF gene on chromosome 3.

The MITF protein participates in p-S397,401,405,409 MITF-M, p-S69, S73 MITF-M, and MITF gene expression pathways.

MITF is classified as a druggable target (Clinically Actionable, Drug Resistance, Druggable Genome, Enzyme, and Transcription Factor categories) with score 1.0.

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

Phenotype severity distribution: 1 always present feature, 2 very common features, 1 common feature.

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

4 publications have been identified in PubMed for Waardenburg syndrome type 2A. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

• Soleimani F (2025). [PMID: 41307816](https://pubmed.ncbi.nlm.nih.gov/41307816/). *Biochemical genetics*. [Basic Science / Preclinical]

• Stephenson KAJ (2024). [PMID: 38853699](https://pubmed.ncbi.nlm.nih.gov/38853699/). *Ophthalmic genetics*. [Case Report / Case Series]

• Bacci GM (2024). [PMID: 38965328](https://pubmed.ncbi.nlm.nih.gov/38965328/). *Scientific reports*. [Case Report / Case Series]

• Li K (2024). [PMID: 39732942](https://pubmed.ncbi.nlm.nih.gov/39732942/). *Sci Rep*. [Basic Science / Preclinical]