A gene for
Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.
Waardenburg syndrome 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.
Waardenburg syndrome (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.
