Notably, c.1469T > C in the IDUA gene (29.4% in Hurler disease), c.230 C > G in the GALNS gene (22.5% in Morquio-A disease), c.1448T > C in the GBA1 gene (56% in Gaucher disease), and c.1385 C > T and c.964G > T in the HEXA gene (11.3% and 8.1% respectively in Tay-Sachs disease) were the most common variants. The gene discussed is GBA1; the disease is Gaucher disease.