De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features.
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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.
Published Version (Please cite this version)10.1101/mcs.a000661
Publication InfoCho, MT; Chung, WK; Douglas, G; Douglas, J; Friedman, B; Jiang, Yong-Hui; ... Telegrafi, A (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). pp. a000661. 10.1101/mcs.a000661. Retrieved from http://hdl.handle.net/10161/13888.
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Professor of Pediatrics
The research in Jiang’s lab is directed at understanding genetic and epigenetic basis of human diseases with a focus on genomic imprinting disorders of Angelman and Prader-Willi syndrome as well as autism spectrum disorders. Angelman syndrome and Prader-Willi syndrome are two best examples of genomic imprinting disorders caused by the defect of an imprinting domain in the human chromosome 15q11-q13 region. Autism spectrum disorders are neurodevelopmental disorder that affects 1 out
Professor in Pediatrics
Undiagnosed disorders are often not amenable to the traditional diagnostic approaches and the lack of a diagnosis leads to repeated clinical consultations and laboratory testing, causing substantial personal and familial emotional and financial stress. For parents of children with undiagnosed diseases, the extensive search for a diagnosis and inherent uncertainty surrounding their child’s health can result in stress, frustration and worries about worsening of symptoms and delays i
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