The PAX3 gene belongs to a family of PAX genes that plays a critical role in the formation of tissues and organs during embryonic development. A novel mutation of the PAX3 gene in a Chinese family with Waardenburg syndrome type I 1 INTRODUCTION. The phenotype is transmitted in an autosomal dominant pattern in either case but several families have been reported with type 1 WS in parents heterozygous for PAX3 mutations who had a homozygous child with the type 3 phenotype. The gene view histogram is a graphical view of mutations across PAX3. Restrict the view to a region of the gene by dragging across the histogram to highlight the region of interest, or by using the sliders in the filters panel to the left. Tassabehji M(1), Read AP, Newton VE, Patton M, Gruss P, Harris R, Strachan T. Author information: (1)University Department of Medical Genetics, St Mary's Hospital, Manchester, UK. Mutations in the PAX3 gene are responsible for both types and both have been found in the same family. Waardenburg syndrome (WS), also known as auditory‐pigmentary syndrome, is the most common cause of... 2 MATERIALS AND METHODS. These mutations are displayed at the amino acid level across the full length of the gene by default. Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2. The PAX gene family is also important for maintaining the normal function of certain cells after birth. To carry out these roles, the PAX genes provide instructions for making proteins that attach (bind) to specific areas of DNA.

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