A nonsense mutation in CHCHD2 in a patient with Parkinson disease

While Parkinson disease (PD) was for many years regarded as a textbook example of a nongenetic disease, this view has dramatically changed over the past 2 decades with the identification of a number of genes, mutations in which cause monogenic PD. In recent years, the identification of disease genes was facilitated due to the advent of next-generation sequencing (NGS) resulting in an exponential increase in the number of reported disease genes. 1 These observations require independent confirmation since the number of false-positive results has likewise considerably increased. 2