Figure 2. Segregation analysis of the mutation c.369delA (p.D124TfsX7) identified in family FRP-249. A: Electropherogram corresponding to the wild type sequence (blue arrow indicating c.369A nucleotide position). B: Electropherogram corresponding to the patient, carrying the mutation in homozygous state (c.369delA). C: Family tree showing the segregation of the p.D124TfsX7 mutation.