In literature four types of waardenburg syndrome
are described on the basis of clinical and genetic criteria.
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.
Mutations in endothelin-ss- receptor gene (EDNRB) gene have been reported to cause Waardenburg syndrome
(WS4) in humans.
Tachibana M, Kobayashi Y, Matsushima Y: Mouse models for four types of Waardenburg syndrome
Mutations in Sox 10 are associated with Waardenburg syndrome
, a rare inherited condition causing deafness and reduced hair, skin and eye pigment, and Hirschsprung's disease, which occurs as a result of incomplete development of nerves in the large intestine and leads to severe digestive problems.
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.
The mother's deafness since birth was due to the genetic disorder 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.