WS2B
Putative gene associated with Waardenburg syndrome type 2
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]
- ↑ 1.0 1.1 1.2 OMIM Entry - % 600193 - WAARDENBURG SYNDROME, TYPE 2B; WS2B Full text, www.omim.org, Accessed on: 2019-12-23.
- ↑ , A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1, Nature Genetics, Vol. 7(Issue: 4), pp. 509–12, DOI: 10.1038/ng0894-509, PMID: 7951321,
- ↑ , A locus for Waardenburg syndrome type II maps to chromosome 1p13.3-2.1, American Journal of Human Genetics, Vol. 55(Issue: Suppl.3),
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