De novo truncating mutations in WASF1 cause intellectual disability with seizures

Next-generation sequencing has been invaluable in the elucidation of the genetic etiology of many subtypes of intellectual disability in recent years. Here, using exome sequencing and whole-genome sequencing, we identified three de novo truncating mutations in WAS protein family member 1 (WASF1) in...

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Main Authors: Ito, Y, Carss, KJ, Duarte, ST, Hartley, T, Keren, B, Kurian, MA, Marey, I, Charles, P, Mendonça, C, Nava, C, Pfundt, R, Sanchis-Juan, A, Van Bokhoven, H, Van Essen, A, Van Ravenswaaij-Arts, C, Boycott, KM, Kernohan, KD, Dyack, S, Raymond, FL, Aitman, T, Bennett, D, Caulfield, M, Chinnery, P, Gale, D, Koziell, A, Kuijpers, TW, Laffan, MA, Maher, E, Markus, HS, Morrell, NW, Ouwehand, WH, Perry, DJ, Roberts, I, Smith, KGC, Thrasher, A, Watkins, H, Williamson, C, Woods, G, Ashford, S, Bradley, JR, Fletcher, D, Hammerton, T, James, R, Kingston, N, Penkett, CJ, Stirrups, K, Veltman, M, Young, T, Brown, M, Clements-Brod, N, Davis, J, Dewhurst, E, Dolling, H, Erwood, M, Frary, A, Linger, R, Martin, JM, Papadia, S, Rehnstrom, K, Stark, H, Allsup, D, Austin, S, Bakchoul, T, Bariana, TK, Bolton-Maggs, P, Chalmers, E, Collins, J, Collins, P, Erber, WN, Everington, T, Favier, R, Freson, K, Furie, B, Gattens, M, Gebhart, J, Gomez, K, Greene, D, Greinacher, A, Gresele, P, Hart, D, Heemskerk, JWM, Henskens, Y, Kazmi, R, Keeling, D, Kelly, AM, Lambert, MP, Lentaigne, C, Liesner, R, Makris, M, Mangles, S, Mathias, M, Millar, CM, Mumford, A, Nurden, P, Payne, J, Pasi, J, Peerlinck, K, Revel-Vilk, S, Richards, M, Rondina, M, Roughley, C, Schulman, S, Schulze, H, Scully, M, Sivapalaratnam, S, Stubbs, M, Tait, RC, Talks, K, Thachil, J, Toh, C-H, Turro, E, Van Geet, C, De Vries, M, Warner, TQ, Watson, H, Westbury, S, Furnell, A, Mapeta, R, Rayner-Matthews, P, Simeoni, I, Staines, S, Stephens, J, Watt, C, Whitehorn, D, Attwood, A, Daugherty, L, Deevi, SVV, Halmagyi, C, Hu, F, Matser, V, Meacham, S, Megy, K, Shamardina, O, Titterton, C, Tuna, S, Yu, P, Von Ziegenweldt, J, Astle, W, Bleda, M, Gräf, S, Haimel, M, Lango-Allen, H, Richardson, S, Calleja, P, Rankin, S, Turek, W, Anderson, J, Bryson, C, Carmichael, J, McJannet, C, Stock, S, Allen, L, Ambegaonkar, G, Armstrong, R, Arno, G, Bitner-Glindzicz, M, Brady, A, Canham, N, Chitre, M, Clement, E, Clowes, V, Deegan, P, Deshpande, C, Doffinger, R, Firth, H, Flinter, F, French, C, Gardham, A, Ghali, N, Gissen, P, Grozeva, D, Henderson, R, Hensiek, A, Holden, S, Holder, M, Holder, S, Hurst, J, Josifova, D, Krishnakumar, D, Lees, M, Maclaren, R, Maw, A, Mehta, S, Michaelides, M, Moore, A, Murphy, E, Park, S-M, Parker, A, Patch, C, Paterson, J, Rankin, J, Reid, E, Rosser, E, Sandford, R, Santra, S, Scott, R, Sohal, A, Stein, P, Thomas, E, Thompson, D, Tischkowitz, M, Vogt, J, Wakeling, E, Wassmer, E, Webster, A, Ali, S, Boggard, HJ, Church, C, Coghlan, G, Cookson, V, Corris, PA, Creaser-Myers, A, Dacosta, R, Dormand, N, Eyries, M, Gall, H, Ghataorhe, PK, Ghio, S, Ghofrani, A, Gibbs, JSR, Girerd, B, Greenhalgh, A, Hadinnapola, C, Houweling, AC, Humbert, M, Veld, AH, Kennedy, F, Kiely, DG, Kovacs, G, Lawrie, A, Ross, RVM, Machado, R, Masati, L, Meehan, S, Moledina, S, Montani, D, Othman, S, Peacock, AJ, Pepke-Zaba, J, Pollock, V, Polwarth, G, Ranganathan, L, Rhodes, CJ, Rue-Albrecht, K, Schotte, G, Shipley, D, Soubrier, F, Southgate, L, Scelsi, L, Suntharalingam, J, Tan, Y, Toshner, M, Treacy, CM, Trembath, R, Noordegraaf, AV, Walker, S, Wanjiku, I, Wharton, J, Wilkins, M, Wort, SJ, Yates, K, Alachkar, H, Antrobus, R, Arumugakani, G, Bacchelli, C, Baxendale, H, Bethune, C, Bibi, S, Booth, C, Browning, M, Burns, S, Chandra, A, Cooper, N, Davies, S, Devlin, L, Drewe, E, Edgar, D, Egner, W, Ghurye, R, Gilmour, K, Goddard, S, Gordins, P, Grigoriadou, S, Hackett, S, Hague, R, Harper, L, Hayman, G, Herwadkar, A, Huissoon, A, Jolles, S, Kelleher, P, Kumararatne, D, Lear, S, Longhurst, H, Lorenzo, L, Maimaris, J, Manson, A, McDermott, E, Murng, S, Nejentsev, S, Noorani, S, Oksenhendler, E, Ponsford, M, Qasim, W, Quinti, I, Richter, A, Samarghitean, C, Sargur, R, Savic, S, Seneviratne, S, Sewell, C, Staples, E, Stauss, H, Thaventhiran, J, Thomas, M, Welch, S, Willcocks, L, Yeatman, N, Yong, P, Ancliff, P, Babbs, C, Layton, M, Louka, E, McGowan, S, Mead, A, Roy, N, Chambers, J, Dixon, P, Estiu, C, Hague, B, Marschall, H-U, Simpson, M, Chong, S, Emmerson, I, Ginsberg, L, Gosal, D, Hadden, R, Horvath, R, Mahdi-Rogers, M, Manzur, A, Marshall, A, Matthews, E, McCarthy, M, Reilly, M, Renton, T, Rice, A, Themistocleous, A, Vale, T, Van Zuydam, N, Ormondroyd, L, Hudson, G, Wei, W, Man, P, Whitworth, J, Afzal, M, Colby, E, Saleem, M, Alavijeh, OS, Cook, HT, Johnson, S, Levine, AP, Wong, EKS, Tan, R, Mackenzie, A, Majewski, J, Brudno, M, Bulman, D, Dyment, D
Format: Journal article
Published: Cell Press 2018