Publication: Mutations in CRADD result in reduced caspase-2-mediated neuronal apoptosis and cause megalencephaly with a rare lissencephaly variant
Mutations in CRADD result in reduced caspase-2-mediated neuronal apoptosis and cause megalencephaly with a rare lissencephaly variant
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Di Donato, N., Jean, Y. Y., Maga, A. M., Krewson, B. D., Shupp, A. B., Avrutsky, M. I., Roy, A., Collins, S., Olds, C., Willert, R. A., Czaja, A. M., Johnson, R., Stover, J. A., Gottlieb, S., Bartholdi, D., Rauch, A., Goldstein, A., Boyd-Kyle, V., Aldinger, K. A., … Jinks, R. N. (2016). Mutations in CRADD result in reduced caspase-2-mediated neuronal apoptosis and cause megalencephaly with a rare lissencephaly variant. American Journal of Human Genetics, 99, 1117–1129. https://doi.org/10.1016/j.ajhg.2016.09.010
Abstract
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Lissencephaly is a malformation of cortical development typically caused by deficient neuronal migration resulting in cortical thickening and reduced gyration. Here we describe a "thin" lissencephaly (TLIS) variant characterized by megalencephaly, frontal predominant pachygyria, intellectual disability, and seizures. Trio-based whole-exome sequencing and targeted re-sequencing identified recessive mutations of CRADD in six individuals with TLIS from four unrelated families of diverse ethnic backgrounds. CRADD (also known as RAIDD) is
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Creators (Authors)
- Di Donato, Nataliya
- Jean, Ying Y
- Maga, A Murat
- Krewson, Briana D
- Shupp, Alison B
- Avrutsky, Maria I
- Roy, Achira
- Collins, Sarah
- Olds, Carissa
- Willert, Rebecca A
- Czaja, Agnieszka M
- Johnson, Rachel
- Stover, Jessi A
- Gottlieb, Steven
- Bartholdi, Deborah
- Rauch, Anita
- Goldstein, Amy
- Boyd-Kyle, Victoria
- Aldinger, Kimberly A
- Mirzaa, Ghayda M
- Nissen, Anke
- Brigatti, Karlla W
- Puffenberger, Erik G
- Millen, Kathleen J
- Strauss, Kevin A
- Dobyns, William B
- Troy, Carol M
- Jinks, Robert N
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Di Donato, N., Jean, Y. Y., Maga, A. M., Krewson, B. D., Shupp, A. B., Avrutsky, M. I., Roy, A., Collins, S., Olds, C., Willert, R. A., Czaja, A. M., Johnson, R., Stover, J. A., Gottlieb, S., Bartholdi, D., Rauch, A., Goldstein, A., Boyd-Kyle, V., Aldinger, K. A., … Jinks, R. N. (2016). Mutations in CRADD result in reduced caspase-2-mediated neuronal apoptosis and cause megalencephaly with a rare lissencephaly variant. American Journal of Human Genetics, 99, 1117–1129. https://doi.org/10.1016/j.ajhg.2016.09.010
