Antonella Di Caprio, Cecilia Rossi, Emma Bertucci, Luca Bedetti, Natascia Bertoncelli, Francesca Miselli, Lucia Corso, Carolina Bondi, Lorenzo Iughetti, Alberto Berardi, Licia Lugli
Arboleda-Tham syndrome (ARTHS, MIM 616268) is a rare genetic disease, due to a pathogenic variant of Lysine (K) Acetyltransferase 6A (KAT6A) with autosomal dominant inheritance. Firstly described in 2015, ARTHS is one of the more common causes of undiagnosed syndromic intellectual disability. Due to extreme phenotypic variability, ARTHS clinical diagnosis is challenging, mostly at early stage of the disease. Moreover, because of the wide and unspecific spectrum of ARTHS, identification of the syndrome during prenatal life rarely occurs...
December 22, 2023: European Journal of Medical Genetics