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Cold Spring Harb Mol Case Stud. 2016 Jan;2(1):a000661. doi: 10.1101/mcs.a000661.

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

Author information

1
Department of Pediatrics, Columbia University Medical Center, New York, New York 10032, USA;
2
GeneDx, Gaithersburg, Maryland 20877, USA;
3
Greenwood Genetic Center, Greenwood, South Carolina 29646, USA;
4
Boston Children's Hospital, Boston, Massachusetts 02115, USA;
5
Duke University Medical Center, Durham, North Carolina 27710, USA;
6
Arkansas Children's Hospital, Little Rock, Arkansas 72202, USA;
7
Divisions of Medical Genetics and Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi 39216, USA;
8
Department of Pediatrics, Columbia University Medical Center, New York, New York 10032, USA;; Department of Medicine, Columbia University Medical Center, New York, New York 10032, USA.

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.

KEYWORDS:

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

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