Figure 4. Novel MFRP mutation

The MFRPI gene exon 5 partial nucleotide sequence analysis demonstrated a homozygous C insertion at nucleotide position 499 (codon 166) in affected individuals (B, two affected DNA samples are shown). Amino acid numbers are indicated; frameshifted residues are in red. The mutation predicts a truncated MFRP protein (P165fsX198). Both parents were heterozygous for the mutation (A); arrows indicate the sequence frameshift. Control DNA sequence is shown for comparison (C).