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

Rinne, Tuula, Spadoni, Emanuela, Kjaer, Klaus W., Danesino, Cesare, Larizza, Daniela, Kock, Marianne, Huoponen, Kirsi, Savontaus,Marja-Liisa, Aaltonen, Markku, Duijf, Pascal, Brunner, Han G., Penttinen, Maila and van Bokhoven, Hans (2006) Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene. European Journal of Human Genetics, 14 8: 904-910. doi:10.1038/sj.ejhg.5201640


Author Rinne, Tuula
Spadoni, Emanuela
Kjaer, Klaus W.
Danesino, Cesare
Larizza, Daniela
Kock, Marianne
Huoponen, Kirsi
Savontaus,Marja-Liisa
Aaltonen, Markku
Duijf, Pascal
Brunner, Han G.
Penttinen, Maila
van Bokhoven, Hans
Title Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene
Formatted title
Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene
Journal name European Journal of Human Genetics   Check publisher's open access policy
ISSN 1018-4813
1018-4813
Publication date 2006-08
Sub-type Article (original research)
DOI 10.1038/sj.ejhg.5201640
Volume 14
Issue 8
Start page 904
End page 910
Total pages 7
Place of publication London, United Kingdom
Publisher Nature Publishing Group
Collection year 2014
Language eng
Formatted abstract
The ADULT syndrome (Acro-Dermato-Ungual-Lacrimal-Tooth, OMIM 103285) is a rare ectodermal dysplasia associated with limb malformations and caused by heterozygous mutations in p63. ADULT syndrome has clinical overlap with other p63 mutation syndromes, such as EEC (OMIM 604292), LMS (OMIM 603543), AEC (106260), RHS (129400) and SHFM4 (605289). ADULT syndrome characteristics are ectrodactyly, ectodermal dysplasia, mammary gland hypoplasia and normal lip and palate. The latter findings allow differentiation from EEC syndrome. LMS differs by milder ectodermal involvement. Here, we report three new unrelated ADULT syndrome families, all with mutations of arginine 298. On basis of 16 patients in five families with R298 mutation, we delineate the ADULT syndrome phenotype. In addition, we have documented a gain-of-function effect on the dNp63gamma isoform caused by this mutation. We discuss the possible relevance of oral squamous cell carcinoma in one patient, who carries this p63 germline mutation.
Keyword ADULT
Ectodermal dysplasia
Ectrodactyly
p63
Acro-Dermato-Ungual-Lacrimal-Tooth
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: UQ Diamantina Institute Publications
 
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Created: Thu, 05 Dec 2013, 15:39:17 EST by Pascal Duijf on behalf of UQ Diamantina Institute