DLG4-related synaptopathy: a new rare brain disorder.
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Rodríguez-Palmero Agustí, Boerrigter Melissa Maria, Gómez-Andrés David, Aldinger Kimberly A, Marcos-Alcalde Íñigo, Popp Bernt, Everman David B, Lovgren Alysia Kern, Arpin Stephanie, Bahrambeigi Vahid, Beunders Gea, Bisgaard Anne-Marie, Bjerregaard V A, Bruel Ange-Line, Challman Thomas D, Cogné Benjamin, Coubes Christine, de Man Stella A, Denommé-Pichon Anne-Sophie, Dye Thomas J, Elmslie Frances, Feuk Lars, García-Miñaúr Sixto, Gertler Tracy, Giorgio Elisa, Gruchy Nicolas, Haack Tobias B, Haldeman-Englert Chad R, Haukanes Bjørn Ivar, Hoyer Juliane, Hurst Anna C E, Isidor Bertrand, Soller Maria Johansson, Kushary Sulagna, Kvarnung Malin, Landau Yuval E, Leppig Kathleen A, Lindstrand Anna, Kleinendorst Lotte, MacKenzie Alex, Mandrile Giorgia, Mendelsohn Bryce A, Moghadasi Setareh, Morton Jenny E, Moutton Sebastien, Müller Amelie J, O'Leary Melanie, Pacio-Míguez Marta, Palomares-Bralo Maria, Parikh Sumit, Pfundt Rolph, Pode-Shakked Ben, Rauch Anita, Repnikova Elena, Revah-Politi Anya, Ross Meredith J, Ruivenkamp Claudia A L, Sarrazin Elisabeth, Savatt Juliann M, Schlüter Agatha, Schönewolf-Greulich Bitten, Shad Zohra, Shaw-Smith Charles, Shieh Joseph T, Shohat Motti, Spranger Stephanie, Thiese Heidi, Mau-Them Frederic Tran, van Bon Bregje, van de Burgt Ineke, van de Laar Ingrid M B H, van Drie Esmée, van Haelst Mieke M, van Ravenswaaij-Arts Conny M, Verdura Edgard, Vitobello Antonio, Waldmüller Stephan, Whiting Sharon, Zweier Christiane, Prada Carlos E, de Vries Bert B A, Dobyns William B, Reiter Simone F, Gómez-Puertas Paulino, Pujol Aurora, Tümer Zeynep
Аннотация
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. Marfanoid habitus, which was previously suggested to be a characteristic feature of DLG4-related phenotypes, was found in only nine individuals and despite some overlapping features, a distinct facial dysmorphism could not be established. Of the 45 different DLG4 variants, 39 were predicted to lead to loss of protein function and the majority occurred de novo (four with unknown origin). The six missense variants identified were suggested to lead to structural or functional changes by protein modeling studies.
CONCLUSION: The present study shows that clinical manifestations associated with DLG4 overlap with those found in other neurodevelopmental disorders of synaptic dysfunction; thus, we designate this group of disorders as DLG4-related synaptopathy.