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Analysis of institutional authors

Mora, MAuthorHanzu, FaAuthorPradas-Juni, MAuthorAranda, GbAuthorHalperin, IAuthorAguilo, SAuthorFernandez-Rebollo, ECorresponding Author
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New Splice Site Acceptor Mutation in AIRE Gene in Autoimmune Polyendocrine Syndrome Type 1

Publicated to:Plos One. 9 (7): e101616- - 2014-07-02 9(7), DOI: 10.1371/journal.pone.0101616

Authors: Mora, Mireia; Hanzu, Felicia A; Pradas-Juni, Marta; Aranda, Gloria B; Halperin, Irene; Puig-Domingo, Manuel; Aguilo, Sira; Fernandez-Rebollo, Eduardo

Affiliations

Hosp Clin Barcelona, Dept Endocrinol & Nutr, Barcelona, Spain - Author
Hosp Clin Barcelona, Dept Internal Med, Barcelona, Spain - Author
Inst Invest Biomed August Pi & Sunyer IDIBAPS, Barcelona, Spain - Author
Inst Invest Biomed August Pi & Sunyer IDIBAPS, Lab Endocrine Disorders, Barcelona, Spain - Author
Spanish Biomed Res Ctr Diabet & Associated Metab, Barcelona, Spain - Author
Univ Autonoma Barcelona, Dept Endocrinol & Nutr, Hosp Germans Trias & Pujol Res Inst & Hosp, Badalona, Spain - Author
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Abstract

Autoimmune polyglandular syndrome type 1 (APS-1, OMIM 240300) is a rare autosomal recessive disorder, characterized by the presence of at least two of three major diseases: hypoparathyroidism, Addison's disease, and chronic mucocutaneous candidiasis. We aim to identify the molecular defects and investigate the clinical and mutational characteristics in an index case and other members of a consanguineous family. We identified a novel homozygous mutation in the splice site acceptor (SSA) of intron 5 (c.653-1G>A) in two siblings with different clinical outcomes of APS-1. Coding DNA sequencing revealed that this AIRE mutation potentially compromised the recognition of the constitutive SSA of intron 5, splicing upstream onto a nearby cryptic SSA in intron 5. Surprisingly, the use of an alternative SSA entails the uncovering of a cryptic donor splice site in exon 5. This new transcript generates a truncated protein (p.A214fs67X) containing the first 213 amino acids and followed by 68 aberrant amino acids. The mutation affects the proper splicing, not only at the acceptor but also at the donor splice site, highlighting the complexity of recognizing suitable splicing sites and the importance of sequencing the intron-exon junctions for a more precise molecular diagnosis and correct genetic counseling. As both siblings were carrying the same mutation but exhibited a different APS-1 onset, and one of the brothers was not clinically diagnosed, our finding highlights the possibility to suspect mutations in the AIRE gene in cases of childhood chronic candidiasis and/or hypoparathyroidism otherwise unexplained, especially when the phenotype is associated with other autoimmune diseases.

Keywords
Aire proteinBase sequenceFemaleHumansMaleMiddle agedModels, molecularMolecular sequence dataMutationPolyendocrinopathies, autoimmuneRna splice sitesTranscription factors

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Plos One due to its progression and the good impact it has achieved in recent years, according to the agency WoS (JCR), it has become a reference in its field. In the year of publication of the work, 2014, it was in position 9/57, thus managing to position itself as a Q1 (Primer Cuartil), in the category Multidisciplinary Sciences.

From a relative perspective, and based on the normalized impact indicator calculated from the Field Citation Ratio (FCR) of the Dimensions source, it yields a value of: 1.82, which indicates that, compared to works in the same discipline and in the same year of publication, it ranks as a work cited above average. (source consulted: Dimensions May 2025)

Specifically, and according to different indexing agencies, this work has accumulated citations as of 2025-05-25, the following number of citations:

  • WoS: 14
  • Scopus: 16
  • Europe PMC: 8
  • OpenCitations: 14
Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2025-05-25:

  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 26 (PlumX).

It is essential to present evidence supporting full alignment with institutional principles and guidelines on Open Science and the Conservation and Dissemination of Intellectual Heritage. A clear example of this is:

  • The work has been submitted to a journal whose editorial policy allows open Open Access publication.
Leadership analysis of institutional authors

This work has been carried out with international collaboration, specifically with researchers from: United States.

There is a significant leadership presence as some of the institution’s authors appear as the first or last signer, detailed as follows: First Author (Mora Porta, Mireia) and Last Author (Fernandez Rebollo, Eduardo).

the author responsible for correspondence tasks has been Fernandez Rebollo, Eduardo.