Targeted next‐generation sequencing in the diagnosis of neurodevelopmental disorders

We developed a next‐generation sequencing ( NGS ) based mutation screening strategy for neurodevelopmental diseases. Using this system, we screened 284 genes in 40 patients. Several novel mutations were discovered. Patient 1 had a novel mutation in ACTB . Her dysmorphic feature was mild for Baraitser‐Winter syndrome. Patient 2 had a truncating mutation of DYRK1A . She lacked microcephaly, which was previously assumed to be a constant feature of DYRK1A loss of function. Patient 3 had a novel mutation in GABRD gene. She showed Rett syndrome like features. Patient 4 was diagnosed with Noonan syndrome with PTPN11 mutation. He showed complete agenesis of corpus callosum. We have discussed these novel findings.