Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.

doi:10.1016/j.ajhg.2016.09.010

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Article

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.

American journal of human genetics - 3 Nov 2016

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

Abstract excerpt

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...

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PMID: 27773430
DOI: 10.1016/j.ajhg.2016.09.010
PMCID: PMC5097945

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CRADD

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