Ontology highlight
ABSTRACT:
SUBMITTER: Tanaka AJ
PROVIDER: S-EPMC4850890 | biostudies-literature | 2015 Oct
REPOSITORIES: biostudies-literature
Cold Spring Harbor molecular case studies 20151001 1
PURA is the leading candidate gene responsible for the developmental phenotype in the 5q31.3 microdeletion syndrome. De novo mutations in PURA were recently reported in 15 individuals with developmental features similar to the 5q31.3 microdeletion syndrome. Here we describe six unrelated children who were identified by clinical whole-exome sequencing (WES) to have novel de novo variants in PURA with a similar phenotype of hypotonia and developmental delay and frequently associated with seizures. ...[more]