Ontology highlight
ABSTRACT:
SUBMITTER: Cowley MJ
PROVIDER: S-EPMC6492103 | biostudies-literature | 2019 Apr
REPOSITORIES: biostudies-literature
Human mutation 20190131 4
Rapid advances in genomic technologies have facilitated the identification pathogenic variants causing human disease. We report siblings with developmental and epileptic encephalopathy due to a novel, shared heterozygous pathogenic 13 bp duplication in SYNGAP1 (c.435_447dup, p.(L150Vfs*6)) that was identified by whole genome sequencing (WGS). The pathogenic variant had escaped earlier detection via two methodologies: whole exome sequencing and high-depth targeted sequencing. Both technologies ha ...[more]