Biology:WS2B

From HandWiki
Short description: Putative gene associated with Waardenburg syndrome type 2
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

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

  1. 1.0 1.1 1.2 "OMIM Entry - % 600193 - WAARDENBURG SYNDROME, TYPE 2B; WS2B". https://www.omim.org/entry/600193. 
  2. "A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1". Nature Genetics 7 (4): 509–12. August 1994. doi:10.1038/ng0894-509. PMID 7951321. 
  3. "A locus for Waardenburg syndrome type II maps to chromosome 1p13.3-2.1" (in English). American Journal of Human Genetics 55 (Suppl.3). 1994-09-01.