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A novel compound heterozygosity in AAAS gene in two Greek siblings: expanding the genotypic landscape of Allgrove syndrome.

Neurogenetics - 7 May 2026

Siokas Vasileios, Sokratous Maria, Tsika Antonia, Liampas Ioannis, Pepe Georgia, Marogianni Chrysoula, Papageorgiou Elena, Nasioulas Georgios, Stamati Polyxeni, Ralli Stylliani, Dardiotis Efthimios

Abstract excerpt

Allgrove syndrome, also known as Triple-A syndrome, is a rare autosomal recessive disorder characterized by the triad of alacrima, achalasia, and adrenal insufficiency, alongside a broad spectrum of neurological and autonomic dysfunctions. We present a compound heterozygosity for the pathogenic NM_015665.6:c.787T > C, p.(Ser263Pro) and the not previously described in the literature NM_015665.6:c.1442 A > G,...

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PMID: 42091675
DOI: 10.1007/s10048-026-00904-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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