Article
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.
European journal of human genetics : EJHG - 1 Nov 2023
Oppermann Henry, Marcos-Grañeda Elia, Weiss Linnea A, Gurnett Christina A, Jelsig Anne Marie, Vineke Susanne H, Isidor Bertrand, Mercier Sandra, Magnussen Kari, Zacher Pia, Hashim Mona, Pagnamenta Alistair T, Race Simone, Srivastava Siddharth, Frazier Zoë, Maiwald Robert, Pergande Matthias, Milani Donatella, Rinelli Martina, Levy Jonathan, Krey Ilona, Fontana Paolo, Lonardo Fortunato, Riley Stephanie, Kretzer Jasmine, Rankin Julia, Reis Linda M, Semina Elena V, Reuter Miriam S, Scherer Stephen W, Iascone Maria, Weis Denisa, Fagerberg Christina R, Brasch-Andersen Charlotte, Hansen Lars Kjaersgaard, Kuechler Alma, Noble Nathan, Gardham Alice, Tenney Jessica, Rathore Geetanjali, Beck-Woedl Stefanie, Haack Tobias B, Pavlidou Despoina C, Atallah Isis, Vodopiutz Julia, Janecke Andreas R, Hsieh Tzung-Chien, Lesmann Hellen, Klinkhammer Hannah, Krawitz Peter M, Lemke Johannes R, Jamra Rami Abou, Nieto Marta, Tümer Zeynep, Platzer Konrad
Abstract excerpt
Heterozygous, pathogenic CUX1 variants are associated with global developmental delay or intellectual disability. This study delineates the clinical presentation in an extended cohort and investigates the molecular mechanism underlying the disorder in a Cux1+/- mouse model. Through international collaboration, we assembled the phenotypic and molecular information for 34 individuals (23 unpublished individuals)....
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