EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population.
María Carmen Martínez-RomeroMaría Juliana Ballesta-MartínezVanesa López-GonzálezMaría José Sánchez-SolerAna Teresa Serrano-AntónMaría Barreda-SánchezLidya Rodriguez-PeñaMaría Teresa Martínez-MenchonJosé Frías-IniestaPaloma Sánchez-PedreñoPablo Carbonell-MeseguerGuillermo Glover-LópezEncarna Guillén-Navarronull nullPublished in: Orphanet journal of rare diseases (2019)
This is the only molecular study conducted to date in the Spanish population affected by ED. The EDA, EDAR, EDARADD and WNT10A genes constitute the molecular basis in 70.8% of patients with a 74.6% yield in HED and 44.4% in NSTA. Twelve novel variants were identified. The WNT10A gene has been confirmed as the second molecular candidate that has been identified and accounts for one-half of non-EDA patients and one-third of NSTA patients. Further studies using next generation sequencing (NGS) will help to identify other contributory genes in the remaining uncharacterized Spanish patients.