Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.

Abstract excerpt

Waardenburg syndrome (WS) is a rare disorder characterized by distinctive facial features, pigment disturbances, and sensorineural deafness. There are four WS subtypes. WS1 is mostly caused by PAX3 mutations, while MITF, SNAI2, and SOX10 mutations are associated with WS2. More than 100 different disease-causing mutations have been reported in many ethnic groups, but the data from Chinese patients with WS remains...

Topics

• Adolescent
• Adult
• Asian People
• Child
• Child, Preschool
• Female
• Humans
• Infant
• Male
• Microphthalmia-Associated Transcription Factor
• Mutation
• PAX3 Transcription Factor
• Paired Box Transcription Factors