ArticleHormones (Athens, Greece)2019
Triple A syndrome: two siblings with a novel mutation in the AAAS gene.
Article in Hormones (Athens, Greece), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 7 citations in OpenAlex.
- Triple A syndrome with a new mutation pattern, first documented case in Austria: a case report with literature review.Orphanet journal of rare diseases · 2026Review
- Idiopathic achalasia: unraveling the etiology and pathogenesis of an inflammatory disease.Gastroenterology report · 2026Review
- Triple A syndrome (Allgrove syndrome) - A journey from clinical symptoms to a syndrome.Journal of family medicine and primary care · 2020Article
- Spectral Domain - Optical Coherence Tomography findings in Triple-A Syndrome - A case series from Pakistan.Pakistan journal of medical sciencesArticle
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
objectiveTriple A syndrome is a rare autosomal recessive disorder caused by mutations in the AAAS gene on chromosome 12q13. Its main clinical features are alacrima, achalasia, and adrenal insufficiency, with most patients also having neurological symptoms and autonomic dysfunction. The neurologic manifestations are less well-understood, especially in children. Here, we examine two siblings who were found to have a novel mutation in the AAAS gene and who were found to have subtle, but important, neurologic findings.
designThis is a case report of two siblings.
resultsWe discuss two siblings exhibiting different signs of the disorder including neurologic dysfunction found at varying ages. Genetic analysis revealed that both patients have the same compound heterozygous mutations in the AAAS gene consisting of one novel mutation (c.500 C>A, A167E) and one previously described mutation (c.1331+1G> A/IVS14+1 G>A). A diagnosis of triple A syndrome was reached based on their clinical and genetic findings.
conclusionsThe unique characteristic of these two cases is the novel mutation in the AAAS gene, which is likely pathogenic. In addition, they showcase the genotype-phenotype variability of the disease, as well as the importance of early identification of the neurologic abnormalities, which can result in early intervention and possibly improved outcomes.
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