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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

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

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Author(s):
de Araujo, Tania Kawasaki ; Lustosa-Mendes, Elaine ; dos Santos, Ana P. ; Molck, Miriam Coelho ; Volpe-Aquino, Roberta Mazzariol ; Gil-da-Silva-Lopes, Vera L.
Total Authors: 6
Document type: Journal article
Source: MOLECULAR SYNDROMOLOGY; v. 8, n. 4, p. 201-205, 2017.
Web of Science Citations: 0
Abstract

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)

FAPESP's process: 11/23794-7 - Investigative approach in cleft lip and palate and congenital cadiopathy related to 22q11.2 deletion syndrome using open array and aGH techniques
Grantee:Vera Lúcia Gil da Silva Lopes
Support Opportunities: Regular Research Grants