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.<ref name=":0">

OMIM Entry - % 600193 - WAARDENBURG SYNDROME, TYPE 2B; WS2B(link). www.omim.org.

Accessed 2019-12-23.

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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.<ref name=":0" /><ref>,

 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,</ref> 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.<ref name=":0" /><ref name=":102">, 
 A locus for Waardenburg syndrome type II maps to chromosome 1p13.3-2.1, 
 American Journal of Human Genetics, 
 
 Vol. 55(Issue: Suppl.3),</ref>

References

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