PMC6549119_01
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.
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F1
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).