Tietz hypomelanosis – deafness syndrome (Q67305)

Tietz hypomelanosis - deafness syndrome is an autosomal dominant condition characterised by generalised hypomelanosis, blue eyes and profound sensorineural deafness. Affected family members gradually gain some pigmentation and have fair skin and blond to white hair as adults, with white eyebrows and eyelashes. The syndrome is due to a missense mutation in the basic region of the MITF gene.