TP63 mutasyonu içeren sendromlar


AEC sendromu (ankyloblepharon-ectodermal defects-cleft lip/palate, Hay-Wells sendromu; fenotip: Rapp-Hodgkin sendromu)

ADULT sendromu (acro-dermo-ungual-lacrimal-tooth)

EEC3 sendromu (ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3)

Limb-mammary sendromu

Orofasiyal yarık  sendromu 8 (isolated cleft lip/cleft palate; orofacial cleft 8)


Ortak bulgulara göre


  • Brunner HG, Hamel BC, Van Bokhoven H. P63 gene mutations and human developmental syndromes. American Journal of Medical Genetics, 112(3):284-290, 2002

  • Brunner HG, Hamel BC, Van Bokhoven H. The p63 gene in EEC and other syndromes. Journal of Medical Genetics, 39(6):377-381, 2002

  • Rinne T, Hamel B, van Bokhoven H, Brunner HG. Pattern of p63 mutations and their phenotypes--update. American Journal of Medical Genetics A, 140A:1396–406, 2006

  • Rinne T, Brunner HG, van Bokhoven H. p63-associated disorders. Cell Cycle, 6:262–268, 2007

  • Priolo M. Ectodermal dysplasias: An overview and update of clinical and molecular-functional mechanisms. American Journal of Medical Genetics, 149A:2003–2013, 2009

  • Visinoni AF, Lisboa-Costa T, Pagnan NAB, Chautard-Freire-Maia EA. Ectodermal dysplasias: Clinical and molecular review. American Journal of Medical Genetics, 149A:1980–2002, 2009

  • Su X, Chakravarti D, Cho MS, et al. TAp63 suppresses metastasis through coordinate regulation of Dicer and miRNAs. Nature, 467: 986-990, 2010

  • Deutsch GB, Zielonka EM, Coutandin D, et al. DNA damage in oocytes induces a switch of the quality control factor TAp63-alpha from dimer to tetramer. Cell, 144: 566-576, 2011

  • Venkatanarayan A, Raulji P, Norton W, et al. IAPP-driven metabolic reprogramming induces regression of p53-deficient tumors in vivo. Nature, 517: 626-630, 2015