Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene

European Journal of Human Genetics

Volumn 14, Issue 8, 2006, Pages 904-910

  Rinne, Tuula ^a   Spadoni, Emanuela ^b   Kjaer, Klaus W ^c   Danesino, Cesare ^b   Larizza, Daniela ^d   Kock, Marianne ^c   Huoponen, Kirsi ^e   Savontaus, Marja Liisa ^e   Aaltonen, Markku ^e   Duijf, Pascal ^a   Brunner, Han G ^a   Penttinen, Maila ^f   van Bokhoven, Hans ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF PAVIA   (Italy)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

^d FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^e UNIVERSITY OF TURKU   (Finland)

^f TURKU UNIVERSITY HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; ISOPROTEIN; PROTEIN P63;

ACRODERMATOUNGUALLACRIMAL TOOTH SYNDROME; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ECTODERMAL DYSPLASIA; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GERM LINE; HUMAN; HUMAN TISSUE; MALE; MEDICAL DOCUMENTATION; MOUTH CARCINOMA; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; SQUAMOUS CELL CARCINOMA;

ABNORMALITIES, MULTIPLE; ADULT; ARGININE; CHILD; ECTODERMAL DYSPLASIA; FEMALE; GENES, TUMOR SUPPRESSOR; HUMANS; LIMB DEFORMITIES, CONGENITAL; MALE; MIDDLE AGED; MUTATION, MISSENSE; PHENOTYPE; SYNDROME; TOOTH ABNORMALITIES; TRANS-ACTIVATION (GENETICS); TRANSCRIPTIONAL ACTIVATION;

EID: 33746363208     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201640     Document Type: Article

References (18)

1. Rinne T, Hamel BC, van Bokhoven H, Brunner HG: Pattern of p63 mutations and their phenotypes - update. Am J Med Genet A 2006, in press.
2. Propping PA Zerres K: ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia. Am J Med Genet 1993; 45: 642-648.
3. van Bokhoven H, JAng M, Smits AP et al: 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: 538-546.
4. Propping P, Friedl W, Wienker TF, Uhlhaas S, Zerres K: ADULT syndrome allelic to limb mammary syndrome (LMS)? Am J Med Genet 2000; 90: 179-182.
5. Amiel J, Bougeard G, Francannet C et al: TP63 gene mutation in ADULT syndrome. Eur J Hum Genet 2001; 9: 642-645.
6. Duijf PH, Vanmolkot KR, Propping P et al: Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63. Hum Mol Genet 2002; 11: 799-804.
7. Chan I, Harper JI, Mellerio JE, McGrath JA: ADULT ectodermal dysplasia syndrome resulting from the missense mutation R298Q in the p63 gene. Clin Exp Dermatol 2004; 29: 669-672.
8. Celli J, Duijf P, Hamel BC et al: Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell 1999; 99: 143-153.
9. Fomenkov A, Huang YP, Topaloglu O et al: P63 alpha mutations lead to aberrant splicing of keratinocyte growth factor receptor in the Hay-Wells syndrome. J Biol Chem 2003; 278: 23906-23914.
10. van Bokhoven H, Brunner HG: Splitting p63. Am J Hum Genet 2002; 71: 1-13.
11. Parsa R, Yang A, McKeon F, Green H: Association of p63 with proliferative potential in normal and neoplastic human keratinocytes. J Invest Dermatol 1999; 113: 1099-1105.
12. Hibi K, Trink B, Patturajan M et al: AIS is an oncogene amplified in squamous cell carcinoma. Proc Natl Acad Sci USA 2000; 97: 5462-5467.
13. Nylander K, Coates PJ, Hall PA: Characterization of the expression pattern of p63 alpha and delta Np63 alpha in benign and malignant oral epithelial lesions. Int J Cancer 2000; 87: 368-372.
14. Di Como CJ, Urist MJ, Babayan I et al: P63 expression profiles in human normal and tumor tissues. Clin Cancer Res 2002; 8: 494-501.
15. Reis-Filho JS, Torio B, Albergaria A, Schmitt FC: P63 expression in normal skin and usual cutaneous carcinomas. J Cutan Pathol 2002; 29: 517-523.
16. Akahoshi K, Sakazume S, Kosaki K, Ohashi H, Fukushima Y: EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma. Am J Med Genet A 2003; 120: 370-373.
17. Flores ER, Sengupta S, Miller JB et al: Tumor predisposition in mice mutant for p63 and p73: Evidence for broader tumor suppressor functions for the p53 family. Cancer Cell 2005; 7: 363-373.
18. Miller DL, Weinstock MA: Nonmelanoma skin cancer in the United States: incidence. J Am Acad Dermatol 1994; 30: 774-778.