Compound heterozygous mutations in tripeptidyl peptidase 1 cause rare autosomal recessive spinocerebellar ataxia type 7: A case report

Figure 2 Gene sequencing chromatograms. Compound heterozygous variants in the patient, tripeptidyl peptidase 1 (TPP1): c.1468G>A and c.1417G>A (blue arrow). Heterozygous variant TPP1: c.1468G>A (orange arrow) with wild-type TPP1, (c.1417G purple arrow) in the father. Heterozygous variant TPP1: c.1417G>A (blue arrow) with wild-type TPP1 (c.1468G green arrow) in the mother. Heterozygous variant TPP1: c.1417G>A (blue arrow) with wild-type TPP1 (c.1468G green arrow) in the younger brother. TPP1: Tripeptidyl peptidase 1.