Precilla D'Souza, Cristan Farmer, Jean M Johnston, Sangwoo T Han, David Adams, Adam L Hartman, Wadih Zein, Laryssa A Huryn, Beth Solomon, Kelly King, Christopher P Jordan, Jennifer Myles, Elena-Raluca Nicoli, Caroline E Rothermel, Yoliann Mojica Algarin, Reyna Huang, Rachel Quimby, Mosufa Zainab, Sarah Bowden, Anna Crowell, Ashura Buckley, Carmen Brewer, Debra S Regier, Brian P Brooks, Maria T Acosta, Eva H Baker, Gilbert Vézina, Audrey Thurm, Cynthia J Tifft
PURPOSE: GM1 gangliosidosis (GM1) a lysosomal disorder caused by pathogenic variants in GLB1, is characterized by relentless neurodegeneration. There are no approved treatments. METHODS: Forty-one individuals with type II (late-infantile and juvenile) GM1 participated in a single-site prospective observational study. RESULTS: Classification of 37 distinct variants using ACMG criteria resulted in the upgrade of six and the submission of four new variants...
April 16, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics