Gene - CTBP1


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Research Article Summaries: 

Below, we've summarized several research articles that include information about CTBP1. 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.

  • Beck et al., 2016A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects

In this study, researchers performed whole exome sequencing on individuals affected with neurodevelopmental disorders and their parents. Through sequencing, they identified four individuals with the same genetic change in the CTBP1 gene. The CTBP1 gene is known to have a critical role in regulating and coordinating development. All four of identified individuals exhibited similar clinical features as well (see table below), suggesting that the CTBP1 gene may be linked to these features. Ranging in age from 8 to 20 years old, all four individuals exhibited some sort of developmental delay and intellectual disability, low muscle tone (hypotonia), issues with muscle coordination (ataxia), difficulty with weight gain, and dental defects. The CTBP1 gene is not currently linked to any certain diagnosis; however, this study could serve as the basis for additional research, which can help identify the role of the CTPB1 gene in human development and the role it plays in neurodevelopmental disorders.