Title |
A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects
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Published in |
neurogenetics, April 2016
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DOI | 10.1007/s10048-016-0482-4 |
Pubmed ID | |
Authors |
David B. Beck, Megan T. Cho, Francisca Millan, Carin Yates, Mark Hannibal, Bridget O’Connor, Marwan Shinawi, Anne M. Connolly, Darrel Waggoner, Sara Halbach, Brad Angle, Victoria Sanders, Yufeng Shen, Kyle Retterer, Amber Begtrup, Renkui Bai, Wendy K. Chung |
Abstract |
Exome sequencing is an effective way to identify genetic causes of etiologically heterogeneous conditions such as developmental delay and intellectual disabilities. Using exome sequencing, we have identified four patients with similar phenotypes of developmental delay, intellectual disability, failure to thrive, hypotonia, ataxia, and tooth enamel defects who all have the same de novo R331W missense variant in C-terminal binding protein 1 (CTBP1). CTBP1 is a transcriptional regulator critical for development by coordinating different regulatory pathways. The R331W variant found in these patients is within the C-terminal portion of the PLDLS (Pro-Leu-Asp-Leu-Ser) binding cleft, which is the domain through which CTBP1, interacts with chromatin-modifying enzymes and mediates chromatin-dependent gene repression pathways. This is the first report of mutations within CTBP1 in association with any human disease. |
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United States | 1 | 50% |
France | 1 | 50% |
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Members of the public | 2 | 100% |
Mendeley readers
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Unknown | 38 | 100% |
Demographic breakdown
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Researcher | 8 | 21% |
Student > Master | 5 | 13% |
Professor > Associate Professor | 3 | 8% |
Unspecified | 3 | 8% |
Student > Doctoral Student | 2 | 5% |
Other | 6 | 16% |
Unknown | 11 | 29% |
Readers by discipline | Count | As % |
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Biochemistry, Genetics and Molecular Biology | 8 | 21% |
Medicine and Dentistry | 6 | 16% |
Unspecified | 3 | 8% |
Agricultural and Biological Sciences | 2 | 5% |
Neuroscience | 2 | 5% |
Other | 5 | 13% |
Unknown | 12 | 32% |