Summary of identified XIAP variants
Nucleotide sequence | Exon location | Protein sequence | Gender | Zygosity | IBD type | Age at disease onset (years) | |
---|---|---|---|---|---|---|---|
Patient 1 | c.295G>T | 2 | E99X | Male | Hemizygous | CD | 0.75 |
Patient 2 | c.115G>T | 2 | G39C | Male | Hemizygous | CD | 13 |
Patient 3 | c.890A>C | 3 | K297T | Male | Hemizygous | CD | 15 |
Patient 4 | c.968G>A | 3 | W323X | Male | Hemizygous | CD | 16 |