Figure 2.

Three novel nonsense mutations in the CTSC gene. The numbering of the wild type sequence is based upon the cDNA sequence of the CTSC gene (GenBank accession # NM-001814). (A) Pedigree diagram of the family IISC-PLS1. DNA samples from individuals II-4, II-5, III-1 and III-2 were analysed from this family. Direct sequencing of the PCR products from both heterozygous parents II-4 and II-5 and homozygous patients III-1 and III-2 are shown on the right. Arrows indicate the145C>T nucleotide change. (B) Pedigree diagram of the family IISC-PLS2. DNA samples from individuals III-3, III-4, IV-1, IV-3, IV-4 and IV-5 were analysed from this family. Direct sequencing of the PCR products from both heterozygous parents III-3 and III-4, and homozygous patients IV-3 and IV-4 are shown on the right. Arrows indicate the 205C>T nucleotide change. (C) Pedigree diagram of the family IISC-PLS3. DNA sample from only individual II-2 was analysed from this family. Direct sequencing of the PCR product from the patient II-2 is shown on the right. Arrow indicates the 912 C>A change.