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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.

SUBMITTER: Tanaka AJ 

PROVIDER: S-EPMC4849844 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature

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

Tanaka Akemi J AJ   Cho Megan T MT   Retterer Kyle K   Jones Julie R JR   Nowak Catherine C   Douglas Jessica J   Jiang Yong-Hui YH   McConkie-Rosell Allyn A   Schaefer G Bradley GB   Kaylor Julie J   Rahman Omar A OA   Telegrafi Aida A   Friedman Bethany B   Douglas Ganka G   Monaghan Kristin G KG   Chung Wendy K WK  

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]

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