A gene for Waardenburg syndrome
type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.
type 2 caused by mutations in the human microphthalmia (MITF) gene.
Mutations in MITF not only play a role in the development of skin cancer, but also cause severe genetic diseases like the Tietz and Waardenburg syndromes
that lead to deafness, skin and hair pigmentation defects, abnormal eye anatomy and altered vision.
In the case of retinitis pigmentosa, Duchenne muscular dystrophy, and Waardenburg syndrome
, a change in a gene results in the more broadly categorized disabilities of vision loss, limited mobility, and hearing loss, respectively.
(WS) is an inherited disorder often characterized by varying degrees of hearing loss and changes in skin and hair pigmentation.
PAX3 - Portion Waardenburg syndrome
, indicating the occurrence of deafness and changes in pigmentation, including a white forelock.