Detecting mosaic variants in patients with somatic overgrowth syndromes using cell-free circulating DNA and deep sequencing

Somatic overgrowth syndromes (SOS) comprise a group of disorders that are characterised by excessive tissue growth caused by mosaic variants in genes involved in regulating cell growth/cell cycle. For example, somatic mutations in PIK3CA/AKT1 pathway cause multiple asymmetric overgrowth disorders including CLOVES syndrome, Klippel–Trenaunay syndrome, megalencephaly capillary malformation syndrome, Proteus syndrome, megalencephaly polymicrogyria...