Publication: Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish
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Van De Weghe, J. C., Rusterholz, T. D. S., Latour, B., Grout, M. E., Aldinger, K. A., Shaheen, R., Dempsey, J. C., Maddirevula, S., Cheng, Y.-H. H., Phelps, I. G., Gesemann, M., Goel, H., Birk, O. S., Alanzi, T., Rawashdeh, R., Khan, A. O., Bamshad, M. J., Nickerson, D. A., Neuhauss, S. C. F., … Doherty, D. (2017). Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. American Journal of Human Genetics, 101, 23–36. https://doi.org/10.1016/j.ajhg.2017.05.010
Abstract
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Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment. It is defined by a distinctive brain malformation known as the "molar tooth sign" on axial MRI. Subsets of affected individuals have malformations such as coloboma, polydactyly, and encephalocele, as well as progressive retinal dystrophy, fibrocystic kidney disease, and liver fibrosis. More than 35 genes have been associated with JS, but in a subset of families the genetic caus
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Creators (Authors)
- Van De Weghe, Julie C
- Rusterholz, Tamara D S
- Latour, Brooke
- Grout, Megan E
- Aldinger, Kimberly A
- Shaheen, Ranad
- Dempsey, Jennifer C
- Maddirevula, Sateesh
- Cheng, Yong-Han H
- Phelps, Ian G
- Gesemann, Matthias
- Goel, Himanshu
- Birk, Ohad S
- Alanzi, Talal
- Rawashdeh, Rifaat
- Khan, Arif O
- Bamshad, Michael J
- Nickerson, Deborah A
- Dobyns, William B
- Alkuraya, Fowzan S
- Roepman, Ronald
- Doherty, Dan
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Van De Weghe, J. C., Rusterholz, T. D. S., Latour, B., Grout, M. E., Aldinger, K. A., Shaheen, R., Dempsey, J. C., Maddirevula, S., Cheng, Y.-H. H., Phelps, I. G., Gesemann, M., Goel, H., Birk, O. S., Alanzi, T., Rawashdeh, R., Khan, A. O., Bamshad, M. J., Nickerson, D. A., Neuhauss, S. C. F., … Doherty, D. (2017). Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. American Journal of Human Genetics, 101, 23–36. https://doi.org/10.1016/j.ajhg.2017.05.010
