More specifically, we investigated a fibroblast cell line from a 22‐year‐old patient with parkinsonism and a homozygous EPG5 variant in c.6861_6862insTTTCCAACAGCAGAGTTC, p.Phe2287_Leu2288insPheProThrAlaGluPhe. This evidence concerns the gene EPG5 and Parkinson disease.