Gene - CHAMP1

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Research Article Summaries: 

Below, we've summarized several research articles that include information about CHAMP1. We hope you find this information helpful! As we learn more from children who have these gene changes, we expect this list of resources and information to grow.

  • Isidor et al., 2016De novo truncating mutations in the kinetochore-microtubules attachment gene CHAMP1cause syndromic intellectual disability

Researchers recently found genetic changes (also called mutations) in the CHAMP1 gene which may be associated with a rare form of intellectual disability (ID) with speech impairment. By investigating other research projects related to the genetics of intellectual disability, researchers were able to identify six children with mutations in the CHAMP1 gene – in all cases, the mutations were new to the families (not found in either parent; called a “de novo mutation”). Mutations in the CHAMP1 gene’s regular structure and function alter its ability to work with other crucial genes, impairing critical developmental functions. While the six children’s specific genetic changes found in CHAMP1 were all different, all children exhibited similar physical features and levels of developmental delay and/or intellectual disability. The researchers’ findings are summarized in the table below. 

  • Hempel et al., 2015De novo mutations in CHAMP1cause intellectual disability with severe speech impairment

Using whole-exome sequencing of children and their parents, Hempel et al. were able to identify five individuals with CHAMP1 genetic changes (mutations) new to these families (not found in either parent; called a “de novo mutation”). All five individuals exhibited intellectual disability, severe speech impairment, delayed development of motor skills, muscle weakness (hypotonia), and dysmorphic facial features such as an open-mouthed appearance, lips that come to a point (“tented” lips), and weak muscles in the face (facial hypotonia). The CHAMP1 gene has an important role in development, and changes to this gene may have an impact on crucial aspects of development, such as normal brain development. Remarkably, many of these study participants previously had genetic testing for other diagnoses based on their symptoms and clinical features prior to the sequencing performed as part of this study; however, those test results came back “normal”. Through research in de novo mutations like this article, improvements can be made in correctly diagnosing and treating individuals with newly discovered genetic mutations.