Fig. 2. Genetic analysis revealed compound heterozygous mutations including two missense changes in the two patients. Their father and mother were heterozygous for c.763T>C and c.1015C>A, respectively. Both of them were carriers of CTSC gene mutation. (A) c.763T>C in exon 6 (p.C255R). (B) c.1015C>A in exon 7 (p.R339S).
