Güçlü, MetinCangül, Hakan2024-11-012024-11-012015-09-011301-2193https://doi.org/10.4274/tjem.2987https://hdl.handle.net/11452/47293Purpose: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autoimmune disease which is caused by mutations in the autoimmune regulator (AIRE) gene, mapping to 21q22.3. We aimed to evaluate AIRE gene mutations in patients with APECED syndrome and in their relatives.Material and Method: In this study, we investigated two patients with APECED syndrome and their families in terms of the AIRE gene mutation. We performed mutation analysis by sequencing all the 14 exons and the intron-exon boundaries of the AIRE gene on the DNA extracted from the peripheral blood in 12 cases.Results: Mutation analysis of AIRE gene showed that patient 1 was homozygous for the pathogenic mutation c.769C>T (p.R257X; g.8473C>T) which turns arginine coding codon 257 into a stop codon. Her father and all three sisters were heterozygous for this mutation, and no mutation was found in patient 2 and her family members.Discussion: However phenotypic manifestations of the disease vary largely, prompting the idea of other genetic and/or environmental factors contributing to clinical presentation of the disease. The R257X mutation in exon 6 has been discovered in 89% of the alleles of the Finnish patients with APECED, but is also the most frequent one in other ethnic groups. Although this mutation has been discovered in different ethnic groups, patients with R257X mutation have similar clinical findings. The significance of our cases arises from the fact that this mutation (R257X) is demonstrated in our ethnical group and geographical area for the first time.eninfo:eu-repo/semantics/closedAccessCandidiasis-ectodermal dystrophyRegulator aire geneMutationsDiseaseHypoparathyroidismAutoantibodiesManifestationsPopulationChildrenProteinApecedAps iHypoparathyroidismCandidiasisAire geneScience & technologyLife sciences & biomedicineEndocrinology & metabolismEndocrinology & metabolismArticle000362601700004899219310.4274/tjem.2987