Article
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.
Nature genetics - 1 Oct 2020
Jin Sheng Chih, Lewis Sara A, Bakhtiari Somayeh, Zeng Xue, Sierant Michael C, Shetty Sheetal, Nordlie Sandra M, Elie Aureliane, Corbett Mark A, Norton Bethany Y, van Eyk Clare L, Haider Shozeb, Guida Brandon S, Magee Helen, Liu James, Pastore Stephen, Vincent John B, Brunstrom-Hernandez Janice, Papavasileiou Antigone, Fahey Michael C, Berry Jesia G, Harper Kelly, Zhou Chongchen, Zhang Junhui, Li Boyang, Zhao Hongyu, Heim Jennifer, Webber Dani L, Frank Mahalia S B, Xia Lei, Xu Yiran, Zhu Dengna, Zhang Bohao, Sheth Amar H, Knight James R, Castaldi Christopher, Tikhonova Irina R, López-Giráldez Francesc, Keren Boris, Whalen Sandra, Buratti Julien, Doummar Diane, Cho Megan, Retterer Kyle, Millan Francisca, Wang Yangong, Waugh Jeff L, Rodan Lance, Cohen Julie S, Fatemi Ali, Lin Angela E, Phillips John P, Feyma Timothy, MacLennan Suzanna C, Vaughan Spencer, Crompton Kylie E, Reid Susan M, Reddihough Dinah S, Shang Qing, Gao Chao, Novak Iona, Badawi Nadia, Wilson Yana A, McIntyre Sarah J, Mane Shrikant M, Wang Xiaoyang, Amor David J, Zarnescu Daniela C, Lu Qiongshi, Xing Qinghe, Zhu Changlian, Bilguvar Kaya, Padilla-Lopez Sergio, Lifton Richard P, Gecz Jozef, MacLennan Alastair H, Kruer Michael C
Abstract excerpt
In addition to commonly associated environmental factors, genomic factors may cause cerebral palsy. We performed whole-exome sequencing of 250 parent-offspring trios, and observed enrichment of damaging de novo mutations in cerebral palsy cases. Eight genes had multiple damaging de novo mutations; of these, two (TUBA1A and CTNNB1) met genome-wide significance. We identified two novel monogenic etiologies, FBXO31...
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