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Friday 25 May 2007

The paired box 3 (PAX3), a crucial transcription factor, is normally expressed during embryonic development and is absent in normal adult human tissues.

Deregulated expression of PAX3 has been observed in tumors like rhabdomyosarcoma and melanomas.


- Mutations in the PAX3 gene are responsible for the condition in the majority of Waardenburg syndrome (WS) patients.

  • Mutations in PAX3 have been found in WS type 3 (WS3) that is distinguished by musculoskeletal abnormalities, and in a family with a rare subtype of WS, craniofacial-deafness-hand syndrome (CDHS), characterized by dysmorphic facial features, hand abnormalities, and absent or hypoplastic nasal and wrist bones.

- germline mutations of PAX3 in

  • Waardenburg syndrome type I (MIM.193500)
  • Waardenburg syndrome type III (MIM.148820)
  • mild Waardenburg syndrome and spina bifida (7897628)
  • craniofacial-deafness-hand syndrome (MIM.122880)

- PAX3/FOXO1A fusion gene in alveolar rhabdomyosarcoma

- Expression of PAX3 was upregulated in high-grade glioma tissues compared with that in low-grade and normal brain tissues, and increased with ascending tumor World Health Organization (WHO) grades (22231626)

  • PAX3 might be an intrinsic regulator of progression in glioma cells and it might serve as a prognostic factor for this dismal disease. (22231626)

See also

- PAXs


- Clinical Significance and Prognostic Value of PAX3 Expression in Human Glioma. Chen J, Xia L, Wu X, Xu L, Nie D, Shi J, Xu X, Ni L, Ju S, Wu X, Zhu H, Shi W. J Mol Neurosci. 2012 Jan 10. PMID: 22231626

- Barr FG. Gene fusions involving PAX and FOX family members in alveolar rhabdomyosarcoma. Oncogene. 2001 Sep 10;20(40):5736-46. PMID: 11607823

- Hol FA, Hamel BC, Geurds MP, Mullaart RA, Barr FG, Macina RA, Mariman EC. A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome. J Med Genet. 1995 Jan;32(1):52-6. PMID: 7897628

- Galili N, Davis RJ, Fredericks WJ, Mukhopadhyay S, Rauscher FJ 3rd, Emanuel BS, Rovera G, Barr FG. Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma. Nat Genet. 1993 Nov;5(3):230-5. PMID: 8275086