case_images: PMC6549119_01
case_images: Family tree illustrating the autosomal recessive inheritance of the PARK2 p.Ala138Glyfs*7 mutation, and the clinically affected family members at the time of initial genetic testing.
case_images: fneur-10-00555-g0001.jpg
case_images: PMC6549119_01_fneur-10-00555-g0001.jpg
case_images: F1
case_images: Regarding the latter, PCR amplification of exon 4 of PARK2 failed after several attempts, and subsequent MPLA analysis confirmed a homozygous, pathogenic deletion in exon 4 of the PARK2 gene (p.Ala138Glyfs*7), leading to a diagnosis of EO-PD, with both parents subsequently identified as being carriers of the same mutation (Figure 1).