TP63 gene mutation in ADULT syndrome

TP63 gene mutation in ADULT syndrome.

Jeanne Amiel (1) , Gaëlle Bougeard (2) , Christine Francannet (3) , Valérie Raclin , Arnold Munnich (4) , Stanislas Lyonnet (5) , Thierry Frebourg (2)

1 UPD5 - Université Paris Descartes - Paris 5
2 GPMCND - Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques
3 Unité de Génétique Médicale
4 Inserm U781 - Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement
5 Service de Génétique Médicale [CHU Necker]

TP63 gene mutations have recently been shown to be disease causing in EEC and SHFM. Two other overlapping syndromes with ectrodactyly as a major feature, have been mapped to chromosome 3q27 close by the TP63 locus, namely the LMS and ADULT syndromes. Here, we report on a missense TP63 gene mutation in an isolated ADULT syndrome case. This finding widens the spectrum of abnormalities to be ascribed to TP63 gene in human and emphasise on the variable roles of the different Tp63 isotypes.

Domaines: Génétique humaine

Jeanne Amiel, Gaëlle Bougeard, Christine Francannet, Valérie Raclin, Arnold Munnich, et al.. TP63 gene mutation in ADULT syndrome. European Journal of Human Genetics, 2001, 9 (8), pp.642-645. ⟨10.1038/sj.ejhg.5200676⟩. ⟨hal-03106954⟩