Waardenburg syndrome 2A

Waardenburg syndrome 2A

An autosomal dominant disorder (OMIM:193510) with variable expression and penetrance, which is characterised by sensorineural hearing loss, patchy hair and skin depigmentation.

Molecular pathology
Caused by defects of MITF, which encodes microphthalmia-associated transcription factor, a protein that regulates differentiation and development of melanocytes and retinal pigment epithelium, and is responsible for pigment cell-specific transcription of melanogenesis enzyme genes.