Bitten Schönewolf-Greulich, Anne-Marie Bisgaard, Morten Dunø, Cathrine Jespersgaard, Mette Rokkjaer, Lars K Hansen, Eirini Tsoutsou, Christalena Sofokleous, Meral Topcu, Simran Kaur, Nicole J Van Bergen, Karen Brøndum-Nielsen, Martin J Larsen, Kristina P Sørensen, John Christodoulou, Christina R Fagerberg, Zeynep Tümer
Rett syndrome is rarely suspected in males because of the X-linked dominant inheritance. In the literature, only six male patients have been reported with methyl-CpG-binding protein 2 (MECP2) mosaicism. Next-generation sequencing (NGS) methods have enabled better detection of somatic mosaicism compared to conventional Sanger sequencing; however, mosaics can still be difficult to detect. We present clinical and molecular findings in two males mosaic for a pathogenic MECP2 variant. Both have been reexamined using deep sequencing of DNA isolated from four different cell tissues (blood, muscle, fibroblasts and oral mucosa)...
March 2019: Clinical Genetics