WS2B explained

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.^[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.^[3]

Notes and References

1. Web site: OMIM Entry - % 600193 - WAARDENBURG SYNDROME, TYPE 2B; WS2B. www.omim.org. 2019-12-23.
2. Hughes AE, Newton VE, Liu XZ, Read AP . 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 . 7951321 . 10.1038/ng0894-509 . 2913481 .
3. Lalwani AK, San Agustin TB, Wilcox ER . 1994-09-01. A locus for Waardenburg syndrome type II maps to chromosome 1p13.3-2.1. American Journal of Human Genetics. English. 55. Suppl.3. 133315.