Simons Searchlight, funded by the Simons Foundation, provides a valuable resource for researchers by collecting extensive family, medical, developmental, and behavioral data through online surveys and phone interviews with individuals and families affected by rare genetic neurodevelopmental disorders. The HADDTS Foundation partners with Simons Searchlight to enable researchers to access these valuable data and biological samples by making requests through the research platform SFARI Base.
Source: Simons Searchlight for Researchers
Dashboard: Simons Searchlight Research Dashboard (Search CTBP1)
Gene Guide: Simons Searchlight Gene Guide on CTBP1 related illnesses
With our offline patient registry we are able to connect you with the patients and specific mutations you are interested in.
Understanding
Neurodevelopmental and neurodegenerative disorders
Exploring how CTBP1 mutations disrupt neuronal development and function can shed light on the molecular pathways underlying neurodevelopmental disorders.
Link to
Autism Spectrum Disorders
It has been shown that CTBP1 (C-terminal binding protein 1) is significantly down-regulated in individuals with autism spectrum disorders (ASD)⁴. Adding ASD to the conditions associated with altered CTBP1 levels broadens the clinical landscape of this gene and identifies it as a candidate marker for future research into autism biology and diagnostics.
CTBP1 interacts with ACTL6B, and ACTL6B is “[…] the most significantly mutated gene in the Simons Recessive Autism Cohort. […]”⁵
Connections to
Aging and Metabolism
CTBP1 has been implicated in aging processes and metabolic regulation, including lifespan extension in model organisms and NAD(H)-dependent transcriptional regulation².
Insights into
Cancer Biology
CTBP1 is overexpressed in various cancers and is involved in tumor progression, metastasis, and resistance to apoptosis¹.
Collaboration and Research Inquiries
Whether you are seeking patients, patient videos, patient cells, equipment, funding opportunities, collaboration on projects, or have identified any inaccuracies on our website, we want to know. Please provide the details below so we can address your needs promptly. This form is for contact purposes only and is not a database.
Contact us.
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Huang, M., Li, Y., Li, Y., Liu, S., C-Terminal Binding Protein: Regulator between Viral Infection and Tumorigenesis., PMID: 38932279, DOI: 10.3390/v16060988
Chen, S., Whetstine, J. R., Ghosh, S., Hanover, J. A., Gali, R. ., Grosu, P., Shi, Y., The conserved NAD(H)-dependent corepressor CTBP-1 regulates Caenorhabditis elegans life span., PMID: 19164523, DOI: 10.1073/pnas.0802674106
Acosta-Baena, N., Tejada-Moreno, J. A., Arcos-Burgos, M., Villegas-Lanau, C. A., CTBP1 and CTBP2 mutations underpinning neurological disorders: a systematic review., PMID: 36331689, DOI: 10.1007/s10048-022-00700-w
Nahas, L. D., Datta, A., Alsamman, A. M., Adly, M. H., Al‑Dewik, N., Sekaran, K., Sasikumar, K., Verma, K., Doss, G. P. C., & Zayed, H., Genomic insights and advanced machine learning: characterizing autism spectrum disorder biomarkers and genetic interactions., Metabolism Brain Disease, 39(1), 29–42 (Jan 2024). PMID: 38153584, DOI: 10.1007/s11011-023-01322-3
Wenderski, W., Wang, L., Krokhotin, A., Walsh, J. J., Li, H., Shoji, H., Ghosh, S., George, R. D., Miller, E. L., Elias, L., Gillespie, M. A., Son, E. Y., Staahl, B. T., Baek, S. T., Stanley, V., Moncada, C., Shipony, Z., Linker, S. B., Marchetto, M. C. N., Gage, F. H., Chen, D., Sultan, T., Zaki, M. S., Ranish, J. A., Miyakawa, T., Luo, L., Malenka, R. C., Crabtree, G. R., & Gleeson, J. G., Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism., PMID: 32312822, DOI: 10.1073/pnas.1908238117
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Hypotonia, Ataxia, Developmental Delay and Tooth Enamel Defect Syndrome (HADDTS) due to a Heterozygous de Novo Missense Variant in CTBP1 Identified via Whole Genome Sequencing, Sanchez Marco, S. B., Pardington, E., Monaghan, M., Spaull, R., Fadilah, A., Kurian, K., Vijayakumar, K., Smithson, S., Majumdar, A., Case Reports in Pediatrics, 2025
A novel CTBP1 variant in a Chinese pediatric patient with a phenotype distinct from hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, Zhang, Q., Liu, Y., Liu. X., Zhao. Y., Zhang, J., Front. Genet., 2024
CRISPR/Cas9-mediated generation of hESC lines with homozygote and heterozygote p.R331W mutation in CTBP1 to model HADDTS syndrome, Akdas, E. Y., Turan, S., Guhathakurta, D., Ekici, A., Salar, S., Lie, D. C., Winner, B., Fejtova, A., Stem Cell Research, 2022
A pathogenic CTBP1 variant featuring HADDTS with dystrophic myopathology, Kadhim, H., El-Howayek, E., Coppens, S., Duff, J., Topf, A., Kaleeta, J.-P., et al., Neuromuscul. Disord., 2023
Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant, Wong W-K, Balasubramaniam S, Wong RSH, et al., JIMD Reports., 2022
CTBP1 and CTBP2 mutations underpinning neurological disorders: a systematic review, Acosta-Baena, N., Tejada-Moreno, J. A., Arcos-Burgos, M., and Villegas-Lanau, C. A., Neurogenetics, 2022
Exome sequencing identified a de novo frameshift pathogenic variant of CTBP1 in an extremely rare case of HADDTS, Jafari Khamirani, H., Zoghi, S., Saber Sichani, A., Dianatpour, M., Mohammadi, S., Mohammad Bagher Tabei, S., et al., J. Genet., 2021
A further case of hypotonia, ataxia, developmental delay and tooth enamel defect syndrome due to a recurrent C-terminal binding protein 1 mutation, Bhatia, S. K., Arora, V., and Verma, I. C., Clin. Dysmorphol, 2020
An unusual clinical presentation of CTBP1-related syndrome associating muscle dystrophy, cerebellar ataxia and paralytic ileus, El Houwayek E, Coppens S, Topf A, et al., Neuromusc Disorders, 2020
A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity, Beck, D. B., Subramanian, T., Vijayalingam, S., Ezekiel, U. R., Donkervoort, S., Yang, M. L., et al., Neurogenetics, 2019
De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities, Sommerville, E. W., Alston, C. L., Pyle, A., He, L., Falkous, G., Naismith, K., et al., Neurol. Genet., 2017
C-terminal binding protein 1 (CtBP1) deficiency, mimicking congenital myopathy during infancy, Colomer J, De B, Ortez C, et al., Neuromuscul Disord., 2017
A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects, Beck DB, Cho MT, Millan F, Yates C, Hannibal M, O’Connor B, et al., Neurogenetics, 2016