Identification of compound heterozygous mutations in PLA2G6 in the patient. a Mutation analysis of PLA2G6 in the patient. Sequence analysis of the patient’s genomic DNA revealed two mutations: a 5′ splice-site mutation in exon 9 (c.1187-2A > G) and a missense mutation (c.1612C > T, p.R538C) in exon 12. The capital and small letters represent nucleotides in exons and introns, respectively. b Pedigree of the patient with PLA2G6 mutations. Circle, female; square, male; slash through symbol, deceased individual; closed symbol, affected individual. An arrow denotes the proband. The father and mother each carried one of the compound heterozygous mutations found in the patient. c Schematic illustration of exon-intron structure of PLA2G6. Boxes represent exons. The positions of the mutations in the patient are shown. Two primer pairs were designed to amplify cDNA fragments encompassing exons 8 to 13 (primers A-C) and 9 to 13 (primers B-C). d Reverse transcription (RT)-PCR analysis of the patient’s brain. In the patient, a 700-bp fragment containing exon 9 was nearly undetectable by RT-PCR using the primer pair A-C. RT-PCR amplification using the primer pair B-C revealed a 600-bp cDNA fragment containing exon 9, which was recognized in control samples but was less noticeable in the autopsied patient. Amplification of β-actin mRNA was used as an internal control.