Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome

American Journal of Medical Genetics, Part A

Volumn 155, Issue 11, 2011, Pages 2746-2749

  Prontera, Paolo ^a   Garelli, Emanuela ^b   Isidori, Ilenia ^a   Mencarelli, Amedea ^a   Carando, Adriana ^b   Silengo, Margherita Cirillo ^b   Donti, Emilio ^a  

^a UNIVERSITY OF PERUGIA   (Italy)

^b UNIVERSITY OF TURIN   (Italy)

Author keywords

Acro dermato ungual lacrimal tooth syndrome; ADULT; Cleft palate; Ectrodactyly ectodermal dysplasia cleft lip palate; EEC; ELA syndrome; Limb mammary syndrome; LMS; Phenotypic variability; TP63

Indexed keywords

ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME; ADULT; ALOPECIA; ARTICLE; ATRESIA; CASE REPORT; CLEFT PALATE; CLINICAL EXAMINATION; CONDUCTION DEAFNESS; DRY SKIN; ECTODERMAL DYSPLASIA; ECZEMA; EEC SYNDROME; EXFOLIATIVE DERMATITIS; GENE MUTATION; GENETIC COUNSELING; GENETIC SUSCEPTIBILITY; HUMAN; HUMAN TISSUE; HYPODONTIA; LACRIMAL DUCT; LIMB MAMMARY SYNDROME; MALE; MUTATIONAL ANALYSIS; MUTATOR GENE; NAIL DYSTROPHY; PHENOTYPE; PRIORITY JOURNAL; SYNDACTYLY; TP63 GENE;

ABBREVIATIONS AS TOPIC; ADULT; ANODONTIA; BREAST; CLEFT LIP; CLEFT PALATE; DNA MUTATIONAL ANALYSIS; ECTODERMAL DYSPLASIA; GENETIC TESTING; HETEROZYGOTE; HUMANS; INTELLECTUAL DISABILITY; LACRIMAL DUCT OBSTRUCTION; LIMB DEFORMITIES, CONGENITAL; MALE; MUTATION; NAILS, MALFORMED; PHENOTYPE; PIGMENTATION DISORDERS; SYNDACTYLY; TRANSCRIPTION FACTORS; TUMOR SUPPRESSOR PROTEINS;

EID: 80054903555     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34270     Document Type: Article

References (21)

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. Avitan-Hersh E, Indelman M, Bergman R, Sprecher E. 2010. ADULT syndrome caused by a mutation previously associated with EEC syndrome. Pediatr Dermatol 27:643-645.
3. Barrow LL, Van Bokhoven H, Daack-Hirsch S, Andersen T, Van Beersum SE, 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.
4. Bertola DR, Kim CA, Albano LM, Scheffer H, Meijer R, van Bokhoven H. 2004. Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expressions of a single genetic disorder. Clin Genet 66:79-80.
5. 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.
6. Chan I, Harper JI, Mellerio JE, McGrath JA. 2004. ADULT ectodermal dysplasia syndrome resulting from the missense mutation R298Q in the p63 gene. Clin Exp Dermatol 29:669-672.
7. Kier-Swiatecka E, Kock M, Marker P, Eiberg H, Kjaer KW. 2007. The ADULT-EEC spectrum: An R280C mutation with a borderline phenotype. Am J Med Genet Part A 143A:891-894.
8. Prontera P, Escande F, Cocchi G, Donti E, Martini A, Sensi A. 2008. An intermediate phenotype between Hay-Wells and Rapp-Hodgkin syndromes in a patient with a novel P63 mutation: Confirmation of a variable phenotypic spectrum with a common aetiology. Genet Couns 19:397-402.
9. 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.
10. Propping P, Friedl W, Wienker TF, Uhlhaas S, Zerres K. 2000. ADULT syndrome allelic to limb mammary syndrome (LMS)? Am J Med Genet 90:179-182.
11. Reisler TT, Patton MA, Meagher PP. 2006. Further phenotypic and genetic variation in ADULT syndrome. Am J Med Genet Part A 140A:2495-2500.
12. Rinne T, Spadoni E, Kjaer KW, Danesino C, Larizza D, Kock M, Huoponen K, Savontaus ML, Aaltonen M, Duijf P, Brunner HG, Penttinen M, Van Bokhoven H. 2006a. Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the P63 gene. Eur J Hum Genet 14:904-910.
13. Rinne T, Hamel B, van Bokhoven H, Brunner HG. 2006b. Pattern of p63 mutations and their phenotypes-Update. Am J Med Genet Part A 140A:1396-1406.
14. Rinne T, Brunner HG, Van Bokhoven H. 2007. p63-Associated disorders. Cell Cycle 6:262-268.
15. Robin NH, Biesecker LG. 2001. Considerations for a multiaxis nomenclature system for medical genetics. Genet Med 3:290-293.
16. Sahin MT, Türel-Ermertcan A, Chan I, McGrath JA, Oztürkcan S. 2004. Ectodermal dysplasia showing clinical overlap between AEC, Rapp-Hodgkin and CHAND syndromes. Clin Exp Dermatol 29:486-488.
17. 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.
18. Van Bokhoven H, Brunner HG. 2002. Splitting p63. Am J Hum Genet 71:1-13.
19. 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.
20. Van Zelst-Stams WA, Van Steensel MA. 2009. A novel TP63 mutation in family with ADULT syndrome presenting with eczema and hypothelia. Am J Med Genet Part A 149A:1558-1560.
21. Wang X, Yang J, Tao AL, Yang WL, Zhang HJ. 2009. Mutation analysis of p63 gene in the first Chinese family with ADULT syndrome. Chin Med J 122:1867-1871.