Molecular genetics of Waardenburg syndrome
- Author:
- No author available
- Journal Title:
- INTERNATIONAL JOURNAL OF DERMATOLOGY AND VENEREOLOGY
- Issue:
- 4
- DOI:
- 10.3760/cma.j.issn.1673-4173.2008.04.019
- Key Word:
- Waardenburg综合征;遗传学;分子生物学;Waardenburg's syndrome;Genetics;Molecular biology
Abstract： Waardenburg syndrome(WS)is a rare hereditary auditory-pigmentary syndrome.It is usually characterized by pigmentary disturbances of the skin.hair,iris and eyeground as well as congenital sensorineural hearing loss.It is phenotypically and genetically heterogeneous.Based on the complications,it is classified into 4 types,WS1,WS2,WS3 and Ws4.There is evidence that the mutations of genes like paired box gene 3(PAX3),micro-phthalmia.associated transcription factor(MITF),(sex determining region Y)-box 10 (SOX10).Snail-related zinc-finger transcription factor(Slug),endothelin-3(EDN3)and endothelin receptor B(EDNRB)could cause abnormality in the migration of neural-crest cells and proliferation of melanocytes,which subsequently leads to the development of WS.
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