Waardenburg syndrome 2A

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Waardenburg syndrome 2A2016-12-03T07:54:44+00:00

Waardenburg syndrome 2A

GENETICS

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

Molecular pathology Defects of MITF, which encodes microphthalmia-associated transcription factor, a protein that regulates differentiation and development of melanocytes, retinal pigment epithelium and responsible for pigment cell-specific transcription of melanogenesis enzyme genes, cause Waardenburg syndrome 2A. 

Synonym Waardenburg syndrome without dystopia canthorum

References http://www.uniprot.org/uniprot/O75030

http://www.omim.org/entry/193510

 

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