| 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.
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. 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.
References
- ^ "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.
 | This article on a gene on human chromosome 1 is a stub. You can help Misplaced Pages by expanding it. |