Waardenburg Syndrome, Type 2b

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

PAX3, MITF, SOX10, EDN3, EDNRB, SNAI2, AEBP2, GJB2, KIT, EPHA4, ALPP, PAX6, PTPN11, RET, COL4A5, ASS1, TYR, KMT2D, ONECUT2, CHD7, ABO

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Description

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).

Mapping

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.