The ADULT-EEC spectrum: An R280C mutation with a borderline phenotype [2]

American Journal of Medical Genetics, Part A

Volumn 143, Issue 8, 2007, Pages 891-894

  Kier Swiatecka, Elisa ^a   Kock, Marianne ^b   Marker, Peter ^a   Eiberg, Hans ^b   Kjaer, Klaus Wilbrandt ^b  

^a ODENSE UNIVERSITY HOSPITAL   (Denmark)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYSTEINE;

ACRODERMATOUNGUAL LACRIMAL TOOTH SYNDROME; AMINO ACID SUBSTITUTION; CASE REPORT; CLINICAL FEATURE; ECTODERMAL DYSPLASIA; ECTRODACTYLY ECTODERMAL DYSPLASIA CLEFTING SYNDROME; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LETTER; MALE; PRIORITY JOURNAL; SCHOOL CHILD; TP63 GENE;

CHILD; DNA-BINDING PROTEINS; FAMILY HEALTH; HUMANS; MALE; MUTATION, MISSENSE; PHENOTYPE; SYNDROME; TRANS-ACTIVATORS; TUMOR SUPPRESSOR PROTEINS;

EID: 34147170606     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31654     Document Type: Letter

References (12)

1. Amiel J, Bougeard G, Francannet C, Raclin V, Munnich A, Lyonnet S, Frebourg T. 2001. TP63 gene mutation in ADULT syndrome. Eur J Hum Genet 9:642-645.
2. Barrow LL, van Bokhoven H, Daack-Hirsch S, Andersen T, van Beersum SEC, Gorlin R, Murray JC. 2002. Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts. J Med Genet 39:559-566.
3. Celli J, Duijf P, Hamel BC, Bamshad M, Kramer B, Smits AP, Newbury-Ecob R, Hennekam RC, Van Buggenhout G, van Haeringen A, Woods CG, van Essen AJ, de Waal R, Vriend G, Haber DA, Yang A, McKeon F, Brunner HG, van Bokhoven H. 1999. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell 99:143-153.
4. Duijf PH, Vanmolkot KR, Propping P, Friedl W, Krieger E, McKeon F, Dotsch V, Brunner HG, van Bokhoven H. 2002. Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in P63. Hum Mol Genet 11:799-804.
5. Ianakiev P, Kilpatrick MW, Toudjarska I, Basel D, Beighton P, Tsipouras P. 2000. Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. Am J Hum Genet 67:59-66.
6. Propping P, Zerres K. 1993. ADULT-syndrome: An autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia. Am J Med Genet 45:642-648.
7. Ray AK, Marazita ML, Pathak R, Beever CL, Cooper ME, Goldstein T, Shaw DF, Field LL. 2004. TP63 mutation and clefting modifier genes in an EEC syndrome family. Clin Genet 66:217-222.
8. Rinne T, Hamel B, van Bokhoven H, Brunner HG. 2006a. Patterns of p63 mutations and their phenotypes-update. Am J Med Genet Part A 140A:1396-1406.
9. Rinne T, Spadoni E, Kjaer KW, Danesino C, Larizza D, Kock M, Huopenen K, Savontaus ML, Duijf P, Brunner HG, Penttinen M, van Bokhoven H. 2006b. Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the P63 gene. Eur J Hum Genet 14:904-910.
10. Slavotinek AM, Tanaka J, Winder A, Vargervik K, Haggstrom A, Bamshad M. 2005. Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: Report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63. Am J Med Genet Part A 138A:146-149.
11. Van Bokhoven H, Hamel BCJ, Bamshad M, Sangiorgi E, Gurrieri F, Duijf PSG, Vanmolkot KRJ, van Beusekom E, van Beersum SEC, Celli J, Merkx GFM, 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 JRW, 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. Ying H, Chang DL, Zheng H, McKeon F, Xiao ZX. 2005. DNA-binding and transactivation activities are essential for TAp63 protein degradation. Mol Cell Biol 25:6154-6164.