Article
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
American journal of human genetics - 4 Feb 2021
den Hoed Joery, de Boer Elke, Voisin Norine, Dingemans Alexander J M, Guex Nicolas, Wiel Laurens, Nellaker Christoffer, Amudhavalli Shivarajan M, Banka Siddharth, Bena Frederique S, Ben-Zeev Bruria, Bonagura Vincent R, Bruel Ange-Line, Brunet Theresa, Brunner Han G, Chew Hui B, Chrast Jacqueline, Cimbalistienė Loreta, Coon Hilary, Délot Emmanuèlle C, Démurger Florence, Denommé-Pichon Anne-Sophie, Depienne Christel, Donnai Dian, Dyment David A, Elpeleg Orly, Faivre Laurence, Gilissen Christian, Granger Leslie, Haber Benjamin, Hachiya Yasuo, Abedi Yasmin Hamzavi, Hanebeck Jennifer, Hehir-Kwa Jayne Y, Horist Brooke, Itai Toshiyuki, Jackson Adam, Jewell Rosalyn, Jones Kelly L, Joss Shelagh, Kashii Hirofumi, Kato Mitsuhiro, Kattentidt-Mouravieva Anja A, Kok Fernando, Kotzaeridou Urania, Krishnamurthy Vidya, Kučinskas Vaidutis, Kuechler Alma, Lavillaureix Alinoë, Liu Pengfei, Manwaring Linda, Matsumoto Naomichi, Mazel Benoît, McWalter Kirsty, Meiner Vardiella, Mikati Mohamad A, Miyatake Satoko, Mizuguchi Takeshi, Moey Lip H, Mohammed Shehla, Mor-Shaked Hagar, Mountford Hayley, Newbury-Ecob Ruth, Odent Sylvie, Orec Laura, Osmond Matthew, Palculict Timothy B, Parker Michael, Petersen Andrea K, Pfundt Rolph, Preikšaitienė Eglė, Radtke Kelly, Ranza Emmanuelle, Rosenfeld Jill A, Santiago-Sim Teresa, Schwager Caitlin, Sinnema Margje, Snijders Blok Lot, Spillmann Rebecca C, Stegmann Alexander P A, Thiffault Isabelle, Tran Linh, Vaknin-Dembinsky Adi, Vedovato-Dos-Santos Juliana H, Schrier Vergano Samantha A, Vilain Eric, Vitobello Antonio, Wagner Matias, Waheeb Androu, Willing Marcia, Zuccarelli Britton, Kini Usha, Newbury Dianne F, Kleefstra Tjitske, Reymond Alexandre, Fisher Simon E, Vissers Lisenka E L M
Abstract excerpt
Whereas large-scale statistical analyses can robustly identify disease-gene relationships, they do not accurately capture genotype-phenotype correlations or disease mechanisms. We use multiple lines of independent evidence to show that different variant types in a single gene, SATB1, cause clinically overlapping but distinct neurodevelopmental disorders. Clinical evaluation of 42 individuals carrying SATB1...