MSY000348_Supplementary material_rev.docx (18.83 kB)
Supplementary Material for: ADULT Phenotype and rs16864880 in the TP63 Gene: Two New Cases and Review of the Literature
journal contribution
posted on 2017-04-13, 06:31 authored by Kawasaki de Araujo T., Lustosa-Mendes E., dos Santos A.P., Coelho Molck M., Mazzariol Volpe-Aquino R., Gil-da-Silva-Lopes V.L.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.