Article
Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2025
Berger Eva, Jauss Robin-Tobias, Ranells Judith D, Zonic Emir, von Wintzingerode Lydia, Wilson Ashley, Wagner Johannes, Tuttle Annabelle, Thomas-Wilson Amanda, Schulte Björn, Rabin Rachel, Pappas John, Odgis Jacqueline A, Muthaffar Osama, Mendez-Fadol Alejandra, Lynch Matthew, Levy Jonathan, Lehalle Daphné, Lake Nicole J, Krey Ilona, Kozenko Mariya, Knierim Ellen, Jouret Guillaume, Jobanputra Vaidehi, Isidor Bertrand, Hunt David, Hsieh Tzung-Chien, Holtz Alexander M, Haack Tobias B, Gold Nina B, Dunstheimer Désirée, Donge Mylène, Deb Wallid, De La Rosa Poueriet Katlin A, Danyel Magdalena, Christodoulou John, Chopra Saurabh, Callewaert Bert, Busche Andreas, Brick Lauren, Bigay Bary G, Arlt Marie, Anikar Swathi S, Almohammal Mohammad N, Almanza Deanna, Alhashem Amal, Bertoli-Avella Aida, Sticht Heinrich, Abou Jamra Rami
Abstract excerpt
PURPOSE: Heterozygous pathogenic variants in NTRK2 (HGNC: 8032) have been associated with global developmental delay. However, only scattered cases have been described in small or general studies. The aim of our work was to consolidate our understanding of NTRK2-related disorders and to delineate the clinical presentation. METHODS: We reported an extended cohort of 44 affected individuals, of whom 19 are from the...
Read the complete abstract on PubMed