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

Abstract

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.

Department

Description

Provenance

Subjects

congenital microcephaly, intellectual disability, severe, severe global developmental delay

Citation

Published Version (Please cite this version)

10.1101/mcs.a000661

Publication Info

Tanaka, Akemi J, Megan T Cho, Kyle Retterer, Julie R Jones, Catherine Nowak, Jessica Douglas, Yong-Hui Jiang, Allyn McConkie-Rosell, et al. (2016). De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features. Cold Spring Harb Mol Case Stud, 2(1). p. a000661. 10.1101/mcs.a000661 Retrieved from https://hdl.handle.net/10161/13888.

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