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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.
- Source :
-
Orphanet Journal of Rare Diseases . 1/6/2022, Vol. 17 Issue 1, p1-9. 9p. - Publication Year :
- 2022
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Abstract
- <bold>Objective: </bold>Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) is a rare autosomal recessive systemic autoimmune disease caused by mutations in the autoimmune regulator (AIRE) gene. Incidence of this genetic disorder is estimated at 1/90,000-200,000 worldwide and 1/6500-9000 in genetically isolated populations such as Iran. Here, we investigated AIRE gene mutations in eight independent Iranian non-Jewish families.<bold>Methods: </bold>We sequenced the coding regions of the AIRE gene and documented mutations which were further confirmed in respective parents.<bold>Results: </bold>In total, 11 cases from 8 independent families were recruited. Mucosal candidiasis, Addison's disease and hypoparathyroidism were the most common clinical manifestations in these patients. One novel homozygous splice acceptor mutation (c.308-1G>C), and one novel heterozygous stop-gain mutation (c.1496delC) combined with a known heterozygous c.232T>C missense mutation were found. Moreover, we observed previously described splice donor (c.1095+2T>A), frameshift (c.967-979del), stop-gain (c.415C>T), and missense (c.62C>T) mutations among the patients. All results were co-segregated in parents.<bold>Conclusion: </bold>Here, we reported two novel mutations in the AIRE gene leading to APECED. Our data could provide insight into the phenotypic and genotypic spectrum of APECED in the non-Jewish Iranian population. These findings, in addition to future functional assays, can elucidate disease-causing mechanisms related to the AIRE gene and assist in genetic counseling and diagnosis. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 17501172
- Volume :
- 17
- Issue :
- 1
- Database :
- Academic Search Index
- Journal :
- Orphanet Journal of Rare Diseases
- Publication Type :
- Academic Journal
- Accession number :
- 154534938
- Full Text :
- https://doi.org/10.1186/s13023-021-02170-z