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

Published

Journal Article

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 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.

Full Text

Duke Authors

Cited Authors

  • Tanaka, AJ; Cho, MT; Retterer, K; Jones, JR; Nowak, C; Douglas, J; Jiang, Y-H; McConkie-Rosell, A; Schaefer, GB; Kaylor, J; Rahman, OA; Telegrafi, A; Friedman, B; Douglas, G; Monaghan, KG; Chung, WK

Published Date

  • January 2016

Published In

Volume / Issue

  • 2 / 1

Start / End Page

  • a000661 -

PubMed ID

  • 27148580

Pubmed Central ID

  • 27148580

International Standard Serial Number (ISSN)

  • 2373-2873

Digital Object Identifier (DOI)

  • 10.1101/mcs.a000661

Language

  • eng

Conference Location

  • United States