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

Abstract

The <i>TP63</i> 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 <i>TP63</i> 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.

Case report: ADULT syndrome: a rare case of congenital lacrimal duct abnormality

“…Moreover, our patient had mild symblepharon that can also be observed in AEC, as well as ectodermal-related manifestations, which led us to suspect that the patient may have AEC. However, according to a literature review (Slavotinek et al, 2005;Kawasaki de Araujo et al, 2017), cleft lip and palate are characteristic of most patients with AEC, and more than half of all patients with AEC have hearing impairment and urinary system diseases, which were not consistent with the presentation of our patient. Furthermore, AEC is not typically associated with abnormal limb development.…”