A Mutation in TP63 Causing a Mild Ectodermal Dysplasia Phenotype

Overview

Journal J Invest Dermatol

Publisher Elsevier

Specialty Dermatology

Date 2014 Mar 29

PMID 24675753

Citations 1

Authors

Tomer Goldsmith

Ori Eytan

Lee Magal

Michal Solomon

Shirli Israeli

Emily Warshauer

Meital Grafi-Cohen

Daniel Aberdam

Hans van Bokhoven

Huiqing Zhou

Ofer Sarig

Eli Sprecher

Janna Nousbeck

Affiliations

Soon will be listed here.

Citing Articles

Case report: Prenatal diagnosis of Ectrodactyly-Ectodermal dysplasia-Cleft syndrome (EEC) in a fetus with cleft lip and polycystic kidney.

Biwei H, Min S, Yanlin W, Xinrong Z, Li G, Renyi H Front Genet. 2022; 13:1002089.

PMID: 36386837 PMC: 9662688. DOI: 10.3389/fgene.2022.1002089.

References

van Bokhoven H, Jung M, SMITS A, van Beersum S, Ruschendorf F, van Steensel M . Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27. Am J Hum Genet. 1999; 64(2):538-46. PMC: 1377763. DOI: 10.1086/302246. View

Rinne T, Brunner H, van Bokhoven H . p63-associated disorders. Cell Cycle. 2007; 6(3):262-8. DOI: 10.4161/cc.6.3.3796. View

Mills A, Zheng B, Wang X, Vogel H, Roop D, Bradley A . p63 is a p53 homologue required for limb and epidermal morphogenesis. Nature. 1999; 398(6729):708-13. DOI: 10.1038/19531. View

Koster M . p63 in skin development and ectodermal dysplasias. J Invest Dermatol. 2010; 130(10):2352-8. PMC: 2919658. DOI: 10.1038/jid.2010.119. View

Ianakiev P, Kilpatrick M, Toudjarska I, Basel D, Beighton P, Tsipouras P . Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. Am J Hum Genet. 2000; 67(1):59-66. PMC: 1287102. DOI: 10.1086/302972. View

Rinne T, Bolat E, Meijer R, Scheffer H, van Bokhoven H . Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC). Am J Med Genet A. 2009; 149A(9):1948-51. DOI: 10.1002/ajmg.a.32793. View

Yang A, Kaghad M, Wang Y, Gillett E, Fleming M, Dotsch V . p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities. Mol Cell. 1998; 2(3):305-16. DOI: 10.1016/s1097-2765(00)80275-0. View

Kondo S, Schutte B, Richardson R, Bjork B, Knight A, Watanabe Y . Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet. 2002; 32(2):285-9. PMC: 3169431. DOI: 10.1038/ng985. View

Vanbokhoven H, Melino G, Candi E, Declercq W . p63, a story of mice and men. J Invest Dermatol. 2011; 131(6):1196-207. DOI: 10.1038/jid.2011.84. View

10.

Gritli-Linde A . p63 and IRF6: brothers in arms against cleft palate. J Clin Invest. 2010; 120(5):1386-9. PMC: 2860914. DOI: 10.1172/JCI42821. View

11.

Yang A, Schweitzer R, Sun D, Kaghad M, Walker N, Bronson R . p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development. Nature. 1999; 398(6729):714-8. DOI: 10.1038/19539. View

12.

Ashkenazy H, Erez E, Martz E, Pupko T, Ben-Tal N . ConSurf 2010: calculating evolutionary conservation in sequence and structure of proteins and nucleic acids. Nucleic Acids Res. 2010; 38(Web Server issue):W529-33. PMC: 2896094. DOI: 10.1093/nar/gkq399. View

13.

Celli J, Duijf P, Hamel B, Bamshad M, Kramer B, SMITS A . Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell. 1999; 99(2):143-53. DOI: 10.1016/s0092-8674(00)81646-3. View

14.

Wolff S, Talos F, Palacios G, Beyer U, Dobbelstein M, Moll U . The alpha/beta carboxy-terminal domains of p63 are required for skin and limb development. New insights from the Brdm2 mouse which is not a complete p63 knockout but expresses p63 gamma-like proteins. Cell Death Differ. 2009; 16(8):1108-17. PMC: 2778344. DOI: 10.1038/cdd.2009.25. View

15.

Lo Iacono N, Mantero S, Chiarelli A, Garcia E, Mills A, Morasso M . Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defects. Development. 2008; 135(7):1377-88. DOI: 10.1242/dev.011759. View

16.

Visinoni A, Lisboa-Costa T, Pagnan N, Chautard-Freire-Maia E . Ectodermal dysplasias: clinical and molecular review. Am J Med Genet A. 2009; 149A(9):1980-2002. DOI: 10.1002/ajmg.a.32864. View

17.

Antonini D, Rossi B, Han R, Minichiello A, Di Palma T, Corrado M . An autoregulatory loop directs the tissue-specific expression of p63 through a long-range evolutionarily conserved enhancer. Mol Cell Biol. 2006; 26(8):3308-18. PMC: 1446946. DOI: 10.1128/MCB.26.8.3308-3318.2006. View

18.

Moretti F, Marinari B, Lo Iacono N, Botti E, Giunta A, Spallone G . A regulatory feedback loop involving p63 and IRF6 links the pathogenesis of 2 genetically different human ectodermal dysplasias. J Clin Invest. 2010; 120(5):1570-7. PMC: 2860936. DOI: 10.1172/JCI40267. View

19.

McGrath J, Duijf P, Doetsch V, Irvine A, De Waal R, Vanmolkot K . Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. Hum Mol Genet. 2001; 10(3):221-9. DOI: 10.1093/hmg/10.3.221. View