Ontology highlight
ABSTRACT:
SUBMITTER: Ye Y
PROVIDER: S-EPMC4850885 | biostudies-literature | 2015 Oct
REPOSITORIES: biostudies-literature
Cold Spring Harbor molecular case studies 20151001 1
Seven patients with similar phenotypes of developmental delay and microcephaly were found by whole-exome sequencing to have de novo loss-of-function mutations in POGZ. POGZ is a pogo transposable element-derived protein with a zinc finger cluster. The protein is involved in normal kinetochore assembly and mitotic sister chromatid cohesion and mitotic chromosome segregation. POGZ deficiency may affect mitosis, disrupting brain development and function. ...[more]