Agustí Rodríguez-Palmero, Melissa Maria Boerrigter, David Gómez-Andrés, Kimberly A Aldinger, Íñigo Marcos-Alcalde, Bernt Popp, David B Everman, Alysia Kern Lovgren, Stephanie Arpin, Vahid Bahrambeigi, Gea Beunders, Anne-Marie Bisgaard, V A Bjerregaard, Ange-Line Bruel, Thomas D Challman, Benjamin Cogné, Christine Coubes, Stella A de Man, Anne-Sophie Denommé-Pichon, Thomas J Dye, Frances Elmslie, Lars Feuk, Sixto García-Miñaúr, Tracy Gertler, Elisa Giorgio, Nicolas Gruchy, Tobias B Haack, Chad R Haldeman-Englert, Bjørn Ivar Haukanes, Juliane Hoyer, Anna C E Hurst, Bertrand Isidor, Maria Johansson Soller, Sulagna Kushary, Malin Kvarnung, Yuval E Landau, Kathleen A Leppig, Anna Lindstrand, Lotte Kleinendorst, Alex MacKenzie, Giorgia Mandrile, Bryce A Mendelsohn, Setareh Moghadasi, Jenny E Morton, Sebastien Moutton, Amelie J Müller, Melanie O'Leary, Marta Pacio-Míguez, Maria Palomares-Bralo, Sumit Parikh, Rolph Pfundt, Ben Pode-Shakked, Anita Rauch, Elena Repnikova, Anya Revah-Politi, Meredith J Ross, Claudia A L Ruivenkamp, Elisabeth Sarrazin, Juliann M Savatt, Agatha Schlüter, Bitten Schönewolf-Greulich, Zohra Shad, Charles Shaw-Smith, Joseph T Shieh, Motti Shohat, Stephanie Spranger, Heidi Thiese, Frederic Tran Mau-Them, Bregje van Bon, Ineke van de Burgt, Ingrid M B H van de Laar, Esmée van Drie, Mieke M van Haelst, Conny M van Ravenswaaij-Arts, Edgard Verdura, Antonio Vitobello, Stephan Waldmüller, Sharon Whiting, Christiane Zweier, Carlos E Prada, Bert B A de Vries, William B Dobyns, Simone F Reiter, Paulino Gómez-Puertas, Aurora Pujol, Zeynep Tümer
PURPOSE: Postsynaptic density protein-95 (PSD-95), encoded by DLG4, regulates excitatory synaptic function in the brain. Here we present the clinical and genetic features of 53 patients (42 previously unpublished) with DLG4 variants. METHODS: The clinical and genetic information were collected through GeneMatcher collaboration. All the individuals were investigated by local clinicians and the gene variants were identified by clinical exome/genome sequencing. RESULTS: The clinical picture was predominated by early onset global developmental delay, intellectual disability, autism spectrum disorder, and attention deficit-hyperactivity disorder, all of which point to a brain disorder...
May 2021: Genetics in Medicine: Official Journal of the American College of Medical Genetics