Table 3 Identified mutations in the AIRE gene from non-Jewish Iranian patients
Families | Mutations Detected | Variant effect | Functional Consequence | Position | Genotype | Reference |
|---|---|---|---|---|---|---|
IR-APECED-1 | c.1095+2T>A | Splice donor loss | Splice donor variant | IVS9 | Hom | Seifi-Alan |
IR-APECED-2 | c.1496delC | p.P499LfsX22 | Stop gained | Exon 12 | Compound heterozygote | This study |
c.232T>C | p.Y78R | Missense | Exon 2 | Cihakova [12] | ||
IR-APECED-3 | c.967_979delCTGTCCCCTCCGC | p.L323SfsX51 | Frameshift variant | Exon 8 | Hom | Nagamine [5] |
IR-APECED-4 | c.308-1G>C | Splice acceptor loss | Splice acceptor variant | IVS2 | Hom | This study |
IR-APECED-5 | c.415C>T | p.R139X | Stop gained | Exon 3 | Homo | Rosatelli [13] |
IR-APECED-6 | c.415C>T | p.R139X | Stop gained | Exon 3 | Compound heterozygote | Rosatelli [13] |
c.62C>T | p.A21V | Missense | Exon 1 | Halonen [30] |