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TP63 and the Ectodermal Dysplasia, Ectrodactyly, and Cleft Lip and/or Palate (EEC), Limb-Mammary (LMS), Ankyloblepharon, Ectrodactyly, and Cleft Lip/Palate (AEC, Hay-Wells), Acro-Dermato-Ungual-Lacrimal-Digit (ADULT), and Rapp-Hodgkin Syndromes and Ectrodactyly (Split Hand/Foot Malformation) 

TP63 and the Ectodermal Dysplasia, Ectrodactyly, and Cleft Lip and/or Palate (EEC), Limb-Mammary (LMS), Ankyloblepharon, Ectrodactyly, and Cleft Lip/Palate (AEC, Hay-Wells), Acro-Dermato-Ungual-Lacrimal-Digit (ADULT), and Rapp-Hodgkin Syndromes and Ectrodactyly (Split Hand/Foot Malformation)
Chapter:
TP63 and the Ectodermal Dysplasia, Ectrodactyly, and Cleft Lip and/or Palate (EEC), Limb-Mammary (LMS), Ankyloblepharon, Ectrodactyly, and Cleft Lip/Palate (AEC, Hay-Wells), Acro-Dermato-Ungual-Lacrimal-Digit (ADULT), and Rapp-Hodgkin Syndromes and Ectrodactyly (Split Hand/Foot Malformation)
Author(s):

Michael J. Bamshad

DOI:
10.1093/med/9780199934522.003.0174
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date: 28 February 2021

TP63 is a homologue of the prototypic tumor suppressor gene, TP53. Mutations in TP63 are found in 90% of individuals who have one of five different multiple malformation syndromes: (1) ectodermal dysplasia, ectrodactyly, and cleft lip and/or palate (EEC) syndrome; (2) limb–mammary syndrome (LMS); (3) ankyloblepharon, ectrodactyly, and cleft lip/palate (AEC) syndrome; (4) acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome; and (5) Rapp–Hodgkin syndrome. All of these are characterized by ectodermal defects accompanied by limb malformations that range from subtle to severe. All of these conditions can usually be distinguished from each other and from rarer disorders through the use of clinical criteria, although mutation analysis can be helpful, particularly in sporadic cases. The long-term care of patients with syndromes caused by mutations in TP63 can be challenging, but, in general, most patients do well. None of these conditions is associated with an increased predisposition to tumor suppression, although p63 clearly plays role in tumor suppression in the general population

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