De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features.

Tanaka, Akemi JCho, Megan TRetterer, KyleJones, Julie RNowak, CatherineDouglas, JessicaJiang, Yong-HuiMcConkie-Rosell, AllynSchaefer, G BradleyKaylor, JulieRahman, Omar ATelegrafi, AidaFriedman, BethanyDouglas, GankaMonaghan, Kristin GChung, Wendy K2017-04-012017-04-012016-01https://hdl.handle.net/10161/13888We 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 required for regulating the proper alignment of chromosomes during metaphase in mitosis. Mutations in CHAMP1 may affect cell division and hence brain development and function, resulting in developmental delay and ID.congenital microcephalyintellectual disability, severesevere global developmental delayDe novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features.Journal article