Ontology highlight
ABSTRACT:
SUBMITTER: Tanaka AJ
PROVIDER: S-EPMC4849844 | biostudies-literature | 2016 Jan
REPOSITORIES: biostudies-literature
Cold Spring Harbor molecular case studies 20160101 1
We identified five unrelated individuals with significant global developmental delay and intellectual disability (ID), dysmorphic facial features and frequent microcephaly, and de novo predicted loss-of-function variants in chromosome alignment maintaining phosphoprotein 1 (CHAMP1). Our findings are consistent with recently reported de novo mutations in CHAMP1 in five other individuals with similar features. CHAMP1 is a zinc finger protein involved in kinetochore-microtubule attachment and is re ...[more]