Genotype analysis:
Genomic DNA was extracted from peripheral blood leukocytes of the proband as well as his parents. Genotype analysis was performed on extracted DNA using specific primer sets for all seven exons of CTSC gene(Moghaddasian et al., 2014). Both strands of PCR products were directly sequenced using ABI Prism 310 Automated Sequencer and analyzed with the DNA sequence assembly software (Sequencher 4.10.1, Gene Codes Corporation). Numbering of CTSC nucleotides and amino acids was in accordance with the reference sequence on Gene Bank (NM_001814). Fifty healthy volunteers were also analyzed as a control group.