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Table 3 Identified mutations in the AIRE gene from non-Jewish Iranian patients

From: Molecular and clinical characterization of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) in Iranian non-Jewish patients: report of two novel AIRE gene pathogenic variants

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]
  1. Novel variants identified in this study are shown in bold