WS2B

Waardenburg syndrome, type 2B
Waardenburg syndrome, type 2B
Identifiers
Symbol	WS2B
NCBI gene	7488
HGNC	12794
OMIM	600193
Other data
Locus	Chr. 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

^ ^a ^b ^c "OMIM Entry - % 600193 - WAARDENBURG SYNDROME, TYPE 2B; WS2B". www.omim.org. Retrieved 2019-12-23.
^ Hughes AE, Newton VE, Liu XZ, Read AP (August 1994). "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. doi:10.1038/ng0894-509. PMID 7951321. S2CID 2913481.
^ 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. 55 (Suppl.3). OSTI 133315.

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[:0-1] "OMIM Entry - % 600193 - WAARDENBURG SYNDROME, TYPE 2B; WS2B". www.omim.org. Retrieved 2019-12-23.

[2] Hughes AE, Newton VE, Liu XZ, Read AP (August 1994). "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. doi:10.1038/ng0894-509. PMID 7951321. S2CID 2913481.

[:102-3] 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. 55 (Suppl.3). OSTI 133315.

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