WS2B
| 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[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]
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Contributors: Prab R. Tumpati, MD
