Figure S2.
The chromatograms display the DNA sequences of various family members, including the patient, maternal aunt, maternal grandfather, maternal grandmother, paternal grandmother, mother, sister, maternal uncle, paternal uncle, and an unrelated healthy donor. Each chromatogram is labeled with the genotype of the individual at a specific position in the CTLA4 gene. The patient is shown to have a homozygous C/C genotype, while other family members exhibit either T/T or T/C genotypes. The chromatograms use different colors to represent the four DNA bases: adenine (A), thymine (T), cytosine (C), and guanine (G). The sequences are aligned vertically to highlight the differences in the genotypes among the family members.
Sanger sequencing chromatograms showing the CTLA4 variant in the extended family. The homozygous variant is confirmed in the patient, demonstrating segregation from the heterozygous parents.