PAX3
Pathology
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
See also
PAXs
References
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#