ArticlePloS one2013
A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 29 citations in OpenAlex.
- Clinical, genetic, and immunologic features of APS-1 patients from the Middle East, and a review of the literature.Journal of human immunity · 2026Article
- Aire Mutations and Autoimmune Diseases.Advances in experimental medicine and biology · 2025Review
- Novel homozygous mutations inHeliyon · 2024Article
- A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1.The Journal of clinical investigation · 2023Article
- [Review of clinical practice guidelines for hypoparathyroidism].Problemy endokrinologii · 2021Review
- Characterization of the clinical and genetic spectrum of autoimmune polyendocrine syndrome type 1 in Chinese case series.Orphanet journal of rare diseases · 2021Observational
- Alternative splicing: Human disease and quantitative analysis from high-throughput sequencing.Computational and structural biotechnology journal · 2021Review
- A novel variant in AIRE causing a rare, non‑classical autoimmune polyendocrine syndrome type 1.Molecular medicine reports · 2020Article
- Article
- AAV9-mediated AIRE gene delivery clears circulating antibodies and tissue T-cell infiltration in a mouse model of autoimmune polyglandular syndrome type-1.Clinical & translational immunology · 2020Article
- Standards of care for hypoparathyroidism in adults: a Canadian and International Consensus.European journal of endocrinology · 2019Review
- A new mutation site in the AIRE gene causes autoimmune polyendocrine syndrome type 1.Immunogenetics · 2017Article
- [Clinical analysis and autoimmune regulator gene mutation of autoimmune polyendocrinopathy syndrome type I in a family: a report of one case].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2016Article
- Novel Findings into AIRE Genetics and Functioning: Clinical Implications.Frontiers in pediatrics · 2016Review
- Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease.Scientific reports · 2015Article
- Cohen's h for detection of disease association with rare genetic variants.BMC genomics · 2014Article
- A novel mutation in autoimmune regulator gene causes autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.Journal of endocrinological investigation · 2014Article
- Biomarkers of mercury exposure in the Amazon.BioMed research international · 2014Review
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Authors and funding
9 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare autosomal recessive disease defined by the presence of two of the three conditions: mucocutaneous candidiasis, hypoparathyroidism, and Addison's disease. Loss-of-function mutations of the autoimmune regulator (AIRE) gene have been linked to APS-1. Here we report mutational analysis and functional characterization of an AIRE mutation in a consanguineous Chinese family with APS-1. All exons of the AIRE gene and adjacent exon-intron sequences were amplified by PCR and subsequently sequenced. We identified a homozygous missense AIRE mutation c.463G>A (p.Gly155Ser) in two siblings with different clinical features of APS-1. In silico splice-site prediction and minigene analysis were carried out to study the potential pathological consequence. Minigene splicing analysis and subsequent cDNA sequencing revealed that the AIRE mutation potentially compromised the recognition of the splice donor of intron 3, causing alternative pre-mRNA splicing by intron 3 retention. Furthermore, the aberrant AIRE transcript was identified in a heterozygous carrier of the c.463G>A mutation. The aberrant intron 3-retaining transcript generated a truncated protein (p.G155fsX203) containing the first 154 AIRE amino acids and followed by 48 aberrant amino acids. Therefore, our study represents the first functional characterization of the alternatively spliced AIRE mutation that may explain the pathogenetic role in APS-1.
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