| 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
- 1 2 3 "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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