Cosima M Schmid, Anne Gregor, Gregory Costain, Chantal F Morel, Lauren Massingham, Jennifer Schwab, Chloé Quélin, Marie Faoucher, Julie Kaplan, Rebecca Procopio, Carol J Saunders, Ana S A Cohen, Gabrielle Lemire, Stephanie Sacharow, Anne O'Donnell-Luria, Ranit Jaron Segal, Jessica Kianmahd Shamshoni, Daniela Schweitzer, Darius Ebrahimi-Fakhari, Kristin Monaghan, Timothy Blake Palculict, Melanie P Napier, Alice Tao, Bertrand Isidor, Kamran Moradkhani, André Reis, Heinrich Sticht, Wendy K Chung, Christiane Zweier
PURPOSE: LHX2 encodes the LIM homeobox 2 transcription factor (LHX2), which is highly expressed in brain and well conserved across species, but has not been clearly linked to neurodevelopmental disorders (NDD) to date. METHODS: Through international collaboration, we identified 19 individuals from 18 families with variable neurodevelopmental phenotypes, carrying a small chromosomal deletion, likely gene-disrupting or missense variants in LHX2. Functional consequences of missense variants were investigated in cellular systems...
April 10, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics