Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome

American Journal of Medical Genetics, Part A

Volumn 155, Issue 1, 2011, Pages 228-232

  Sripathomsawat, Warissara ^a   Tanpaiboon, Pranoot ^b   Heering, Jan ^c   Dötsch, Volker ^c   Hennekam, Raoul C M ^d   Kantaputra, Piranit ^a  

^a CHIANG MAI UNIVERSITY   (Thailand)

^b Faculty of Medicine Chiang Mai University   (Thailand)

^c GOETHE UNIVERSITY   (Germany)

^d UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; DNA BINDING PROTEIN; GLUTAMINE; PROLINE; PROTEIN TP63; UNCLASSIFIED DRUG;

CLEFT LIP; DENTAL CARIES; EEC SYNDROME; ENAMEL HYPOPLASIA; ERYTHEMA; GENETIC LINKAGE; GENETIC POLYMORPHISM; HUMAN; HYPERPIGMENTATION; HYPODONTIA; LETTER; MICTURITION DISORDER; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; STRUCTURE ANALYSIS; SYNDACTYLY; UROLOGIC EXAMINATION;

CLEFT LIP; CLEFT PALATE; DNA MUTATIONAL ANALYSIS; ECTODERMAL DYSPLASIA; HUMANS; INFANT; MODELS, MOLECULAR; MUTATION, MISSENSE; NETHERLANDS; PEDIGREE; PHENOTYPE; THAILAND; TOOTH ABNORMALITIES; TRANS-ACTIVATORS; TUMOR SUPPRESSOR PROTEINS; URINATION DISORDERS;

EID: 78650666502     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33768     Document Type: Letter

References (12)

1. Baskin LS, Hayward SW, Young P, Cunha GR. 1996. Role of mesenchymal-epithelial interactions in normal bladder development. J Urol 156: 1820-1827.
2. Kantaputra PN, Hamada T, Kumchai T, McGrath JA. 2003. Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia. J Dent Res 82: 433-437.
3. Laurikkala J, Mikkola ML, James M, Tummers M, Mills AA, Thesleff I. 2006. p63 regulates multiple signalling pathways required for ectodermal organogenesis and differentiation. Development 133: 1553-1563.
4. Leoyklang P, Siriwan P, Shotelersuk V. 2006. A mutation of the p63 gene in non-syndromic cleft lip. J Med Genet 43: e28.
5. Maas SM, de Jong TP, Buss P, Hennekam RC. 1996. EEC syndrome and genitourinary anomalies: An update. Am J Med Genet 63: 472-478.
6. Maclean K, Holme SA, Gilmour E, Taylor M, Scheffer H, Graf N, Smith GH, Onikul E, van Bokhoven H, Moss C, Ades LC. 2007. EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation? Am J Med Genet Part A 143A: 1114-1119.
7. O'Quinn JR, Hennekam RC, Jorde LB, Bamshad M. 1998. Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19. Am J Hum Genet 62: 130-135.
8. Reisler TT, Patton MA, Meagher PP. 2006. Further phenotypic and genetic variation in ADULT syndrome. Am J Med Genet Part A 140A: 2495-2500.
9. Rinne T, Hamel B, van Bokhoven H, Brunner HG. 2006. Pattern of p63 mutations and their phenotypes-Update. Am J Med Genet 140A: 1396-1406.
10. Urist MJ, Di Como CJ, Lu ML, Charytonowicz E, Verbel D, Crum CP, Ince TA, McKeon FD, Cordon-Cardo C. 2002. Loss of p63 expression is associated with tumor progression in bladder cancer. Am J Pathol 161: 1199-1206.
11. van Bokhoven H, Hamel BC, Bamshad M, Sangiorgi E, Gurrieri F, Duijf PH, Vanmolkot KR, van Beusekom E, van Beersum SE, Celli J, Merkx GF, Tenconi R, Fryns JP, Verloes A, Newbury-Ecob RA, Raas-Rotschild A, Majewski F, Beemer FA, Janecke A, Chitayat D, Crisponi G, Kayserili H, Yates JR, Neri G, Brunner HG. 2001. p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet 69: 481-492.
12. Yang A, Schweitzer R, Sun D, Kaghad M, Walker N, Bronson RT, Tabin C, Sharpe A, Caput D, Crum C, McKeon F. 1999. p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development. Nature 398: 714-718.