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

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
IR-APECED-2	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]
IR-APECED-6	c.62C>T	p.A21V	Missense	Exon 1		Halonen [30]

ISSN: 1750-1172