rs149171124

PhD thesis describing a gene hunting study of Parkinson's disease in Queensland families with inherited parkinsonism. Identified multiple pathogenic mutations including KCNJ15 p.R28C segregating in a 9-member kindred, SIPA1L1 p.R236Q in one multi-incident family, and de novo FAM134B p.D381V mutation. Also screened known PD genes (VPS35 p.D620N, LRRK2 p.G2019S, SNCA duplications, PARK2) and examined segregation of putative PD genes in multi-incident families.

This PhD thesis from the Queensland Parkinson's Project screened 3,660 participants (1,861 PD patients and 1,799 controls) for genetic causes of Parkinson's disease. The study identified known pathogenic mutations in PD genes (VPS35 p.D620N, LRRK2 p.G2019S, SNCA duplications, PARK2) and conducted gene hunting in multi-incident families using whole exome sequencing. Novel candidate mutations were identified including KCNJ15 p.R28C (segregating in a 9-member affected family, also found in 2 additional patients), SIPA1L1 p.R236Q (identified in 1 multi-incident family and 1 familial case), and FAM134B p.D381V (found in an early-onset de novo case), though additional evidence is required to establish causality.