Alternative titles; symbols
ORPHA: 3440, 895; DO: 0110947;
Cytogenetic location: 1p21-p13.3 Genomic coordinates (GRCh38) : 1:94,300,001-111,200,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 1p21-p13.3 | Waardenburg syndrome, type 2B | 600193 | Autosomal dominant | 2 |
Waardenburg syndrome type II (WS2) is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (Hughes et al., 1994). WS type 2B (WS2B) maps to chromosome 1p. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; 193510).
For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS3 (148820), and WS4 (277580).
Hughes et al. (1994) found that whereas some families with type II Waardenburg syndrome are linked to DNA markers at 3p14.1-p12 (WS2A; 193510), other families do not show this linkage, indicating the existence of at least one other form of type II, which the authors provisionally designated WS2B.
Lalwani et al. (1994) mapped a WS2 locus, which has been designated WS2B, to chromosome 1p21-p13.3.
Hughes, A. E., Newton, V. E., Liu, X. Z., Read, A. P. A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1. Nature Genet. 7: 509-512, 1994. [PubMed: 7951321] [Full Text: https://doi.org/10.1038/ng0894-509]
Lalwani, A. K., Baldwin, C. T., Morell, R., Friedman, T. B., San Agustin, T. B., Milunsky, A., Adair, R., Asher, J. H., Wilcox, E. R., Farrer, L. A. A locus for Waardenburg syndrome type II maps to chromosome 1p13.3-2.1. (Abstract) Am. J. Hum. Genet. 55 (suppl.): A14 only, 1994.