Fig. 1

Molecular results of the homozygous PRDX1 patient (Pt 11). a PRDX1 Sanger sequencing showing the c.515-1G > T pathogenic variant in DNA samples of Pt 11 (at a homozygous level) and his parents (at a heterozygous level). Vertical arrows indicate the position of the mutated nucleotide in the patient and the corresponding nucleotide in his parents. b Pedigree of the family. c Multiplex RT-PCR showing amplification of MMACHC and ACTB cDNAs (fragments: 512 bp and 174 bp, respectively). Lane1: molecular marker, lane 2: Pt 11, lane 3, 4: normal controls, and lane 5: no cDNA template