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Gene Review

WS2A  -  Waardenburg syndrome, type 2A

Homo sapiens

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Disease relevance of WS2A

 

High impact information on WS2A

 

Biological context of WS2A

  • These findings suggest that the phenotypes of the two families with WS2A in the present study are caused by loss-of-function mutations in one of the two alleles of the MITF gene, resulting in haploinsufficiency of the MITF protein, the protein necessary for normal development of melanocytes [3].
 

Anatomical context of WS2A

  • Previous work has linked a subset of families with WS2 (WS2A) to the MITF gene that encodes a transcription factor with a basic-helix-loop-helix-leucine zipper (bHLH-Zip) motif and that is involved in melanocyte differentiation [3].

References

  1. Mutation at the anophthalmic white locus in Syrian hamsters: haploinsufficiency in the Mitf gene mimics human Waardenburg syndrome type 2. Hodgkinson, C.A., Nakayama, A., Li, H., Swenson, L.B., Opdecamp, K., Asher, J.H., Arnheiter, H., Glaser, T. Hum. Mol. Genet. (1998) [Pubmed]
  2. Melanocytes and the microphthalmia transcription factor network. Steingrímsson, E., Copeland, N.G., Jenkins, N.A. Annu. Rev. Genet. (2004) [Pubmed]
  3. Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A. Nobukuni, Y., Watanabe, A., Takeda, K., Skarka, H., Tachibana, M. Am. J. Hum. Genet. (1996) [Pubmed]
 
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