ADULT Phenotype and rs16864880 in the TP63 Gene: Two New Cases and Review of the Literature

Autor(es)

de Araujo, Tania Kawasaki ; Lustosa-Mendes, Elaine ; dos Santos, Ana P. ; Molck, Miriam Coelho ; Volpe-Aquino, Roberta Mazzariol ; Gil-da-Silva-Lopes, Vera L.

• Tipo de documento: Artigo Científico
• Fonte: MOLECULAR SYNDROMOLOGY; v. 8, n. 4, p. 201-205, 2017.
• Citações Web of Science: 0

Resumo

The TP63 gene has been described in 5 overlapping limb malformation disorders, including a rare autosomal dominant ectodermal disorder named acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome. This article describes 2 patients with ectrodactyly and variable features related to ectodermal dysplasia/ADULT syndrome, and the polymorphism rs16864880 in the TP63 gene, which was not present in their parents. The role of this variant in the genesis of this condition is discussed, based upon a review of 40 cases. The results suggested that rs16864880 may not be directly related to ADULT syndrome. However, it is not possible to exclude its participation in gene interactions in the limb development pathway. (C) 2017 S. Karger AG, Basel (AU)

• Processo FAPESP: 11/23794-7 - Abordagem investigativa em fendas labiopalatais e cardiopatias congênitas relacionadas à síndrome de deleção 22q11.2 por meio das técnicas de open array e aGH
• Beneficiário: Vera Lúcia Gil da Silva Lopes
• Modalidade de apoio: Auxílio à Pesquisa - Regular