Article
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Molecular psychiatry - 1 Feb 2023
Palmer Elizabeth E, Pusch Michael, Picollo Alessandra, Forwood Caitlin, Nguyen Matthew H, Suckow Vanessa, Gibbons Jessica, Hoff Alva, Sigfrid Lisa, Megarbane Andre, Nizon Mathilde, Cogné Benjamin, Beneteau Claire, Alkuraya Fowzan S, Chedrawi Aziza, Hashem Mais O, Stamberger Hannah, Weckhuysen Sarah, Vanlander Arnaud, Ceulemans Berten, Rajagopalan Sulekha, Nunn Kenneth, Arpin Stéphanie, Raynaud Martine, Motter Constance S, Ward-Melver Catherine, Janssens Katrien, Meuwissen Marije, Beysen Diane, Dikow Nicola, Grimmel Mona, Haack Tobias B, Clement Emma, McTague Amy, Hunt David, Townshend Sharron, Ward Michelle, Richards Linda J, Simons Cas, Costain Gregory, Dupuis Lucie, Mendoza-Londono Roberto, Dudding-Byth Tracy, Boyle Jackie, Saunders Carol, Fleming Emily, El Chehadeh Salima, Spitz Marie-Aude, Piton Amelie, Gerard Bénédicte, Abi Warde Marie-Thérèse, Rea Gillian, McKenna Caoimhe, Douzgou Sofia, Banka Siddharth, Akman Cigdem, Bain Jennifer M, Sands Tristan T, Wilson Golder N, Silvertooth Erin J, Miller Lauren, Lederer Damien, Sachdev Rani, Macintosh Rebecca, Monestier Olivier, Karadurmus Deniz, Collins Felicity, Carter Melissa, Rohena Luis, Willemsen Marjolein H, Ockeloen Charlotte W, Pfundt Rolph, Kroft Sanne D, Field Michael, Laranjeira Francisco E R, Fortuna Ana M, Soares Ana R, Michaud Vincent, Naudion Sophie, Golla Sailaja, Weaver David D, Bird Lynne M, Friedman Jennifer, Clowes Virginia, Joss Shelagh, Pölsler Laura, Campeau Philippe M, Blazo Maria, Bijlsma Emilia K, Rosenfeld Jill A, Beetz Christian, Powis Zöe, McWalter Kirsty, Brandt Tracy, Torti Erin, Mathot Mikaël, Mohammad Shekeeb S, Armstrong Ruth, Kalscheuer Vera M
Abstract excerpt
Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in reduced or complete loss-of-function (LOF) of the encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype in both males and females. Through international clinical matchmaking and interrogation of public variant databases we assembled a database of 90 rare CLCN4 missense variants in...