Another GBA1 gene variant (rs421016-T/C; c.1448T>C which encodes p.L444P, also called p.L483P; ClinVar ID: 4288), was identified by WGS of a PD patient (Fig. 1C, subject III:1) from family B. Segregation analysis of the p.L444P variant in family B revealed two additional PD patients as heterozygous carriers (Fig. 1C, subjects II:2 and II:4). Here, GBA1 is linked to Parkinson disease.