WS2B

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Waardenburg syndrome, type 2B
Identifiers
SymbolWS2B
NCBI gene7488
HGNC12794
OMIM600193
Other data
LocusChr. 1 p21-1p13.3


WS2B is a putative gene associated with Waardenburg syndrome type 2. It has not yet been isolated from its locus of chromosome 1p21–1p13.3 since it was first reported in 1994.[1]

History[edit | edit source]

This locus was first linked to Waardenburg syndrome in 1994, when the study that first identified mutations in MITF in patients with Waardenburg syndrome type 2 also found that some patients did not have any mutations in this region.[1][2] A second 1994 study found a link to chromosome 1 in the locus 1p21–p13.3. This became known as type 2B of the condition, however it has not been documented since, and the gene responsible remains unknown.[1][3]

References[edit | edit source]

  1. ↑ 1.0 1.1 1.2 "OMIM Entry - % 600193 - WAARDENBURG SYNDROME, TYPE 2B; WS2B". www.omim.org. Retrieved 2019-12-23.
  2. ↑
  3. ↑
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Contributors: Prab R. Tumpati, MD