Figure 2

Novel PCSK5 frameshift mutation in the patient as demonstrated by Sanger sequencing. a Two novel missense mutations are validated and show inheritance from the maternal allele. Note that another missense mutation just downstream of the two missense mutations is observed in the child, but not in the mother. The mutations are located in exon 14 of transcript PCSK5-003 (ENST00000376767). b A frameshift mutation is validated and shows inheritance from the paternal allele. The mutation is located in exon 34 of transcript PCSK5-201 (ENST00000545128) or exon 28 of transcript PCSK5-002 (ENST00000424854). Just after the frameshift, a cysteine codon is changed to a stop codon, which suggests a functional impact on this gene. Another missense mutation (c.4876C > A [p.Q1626K], c.3976C > A [p.Q1326K]) is validated in exon 34 but is presumed to be functionally irrelevant due to the upstream stop codon.