Journal article

Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

Bitten Schonewolf-Greulich, Anne-Marie Bisgaard, Morten Duno, Cathrine Jespersgaard, Mette Rokkjaer, Lars K Hansen, Eirini Tsoutsou, Christalena Sofokleous, Meral Topcu, Simran Kaur, Nicole J Van Bergen, Karen Brondum-Nielsen, Martin J Larsen, Kristina P Sorensen, John Christodoulou, Christina R Fagerberg, Zeynep Tumer

CLINICAL GENETICS | WILEY | Published : 2019

Abstract

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). Deep sequencing of the different tissues revealed that the variants were..

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