Lack of the human choline transporter-like protein CTL2 causes hearing impairment and a rare red blood cell phenotype
Bérengère Koehl, Cédric Vrignaud, Mahmoud Mikdar, Thankam Nair, Lucy Yang, Guy Laiguillon, Sophie Anselme-Martin, Claudine Giroux‐Lathuile, Hanane El Kenz, Olivier Hermine, Narla Mohandas, Jean‐Pierre Cartron, Yves Colin, Olivier Detante, Caroline Le Van Kim, , Thierry Peyrard
The paper identifies CTL2 deficiency in humans causing hearing loss, arterial aneurysms, and epilepsy, while showing normal platelet function and erythropoiesis.
medRxiv · May 13, 2022 · PreprintGenetic & Genomic Medicine