Clinical and genetic characterisation of a series of patients with triple A syndrome

Kurnaz, Erdal; Duminuco, Paolo; Aycan, Zehra; Savaş‐Erdeve, Şenay; Şahin, Nursel; Keskin, Melişah; Bayramoğlu, Elvan; Bonomi, Marco; Çeti̇nkaya, Semra

doi:10.1007/s00431-017-3068-8

Cited by 23 publications

(15 citation statements)

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“…Our patient had a c.881delT deletion mutation and a c.835C>T mutation in the AAAS gene. This report is the first to describe a c.881delT mutation in a patient with triple A syndrome (13)(14)(15). Located in the active locus of the AAAS gene, the c.881delT mutation may influence the pathogenicity of triple A syndrome.…”

Section: Discussionmentioning

confidence: 80%

Sporadic Triple A (Allgrove) Syndrome with Novel Tandem Mutations

et al. 2021

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In triple A (Allgrove) syndrome, motor neuron disease is a co-morbid condition. We herein report a 38year-old Japanese man with triple A syndrome and novel tandem mutations: a novel c.881delT deletion mutation and c.835C>T localized to the AAAS gene. A nerve conduction study revealed marked axonal damage in several motor nerves. Tandem mutations in the AAAS gene may be involved in co-morbid motor neuron disease and aberrant electrophysiological findings.

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Section: Discussionmentioning

confidence: 80%

Sporadic Triple A (Allgrove) Syndrome with Novel Tandem Mutations

et al. 2021

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“…[ 13 ] The product of this gene is ALADIN, which is nucleoporin at the nuclear pore complex. [ 14 ] Nucleoporin is an important transporter between nucleus and cytoplasm and mutant ALADIN results in defective DNA repairs. The presence of this mutation is a diagnostic feature of Allgrove syndrome.…”

Section: Discussionmentioning

confidence: 99%

Triple A syndrome (Allgrove syndrome) – A journey from clinical symptoms to a syndrome

Yadav

Kumar

Bohra

et al. 2020

J Family Med Prim Care

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Triple A syndrome (Allgrove syndrome) is characterized by a triad of specific features, namely, alacrimia, adrenal insufficiency, and achalasia cardia. It is a rare autosomal recessive disorder. In the present study, an 18-year-old boy was presented with complaints of decreased tears, darkening of the skin, difficulty in walking and standing up from sitting position, and difficulty in swallowing liquids. Adrenal insufficiency, alacrimia, achalasia, and neurological manifestations were confirmed with relevant laboratory investigations. His condition improved with steroids and artificial teardrops. However, a vigilant eye of the clinician for clinical clues of syndromic manifestation will help in early diagnosis and proper management.

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“…Nonetheless, the earliest sign of this syndrome is actually alacrimia, which is almost invariably already existent at the moment of disease presentation 2,3 . In fact, the clinical diagnosis of TAS is usually made through the combination of 2 manifestations out of the classic Allgrove triad, although some authors claim that even incomplete presentations, especially the recognition of alacrimia alone, are highly suspicious for this syndrome [3][4][5] . Once the clinical manifestations have been carefully evaluated, genetic testing is important for final diagnosis.…”

Section: Clinical Presentationmentioning

confidence: 99%

Triple-A Syndrome (TAS): An In-Depth Overview on Genetic and Phenotype Heterogeneity

Pogliaghi

Cangiano

Duminuco

et al. 2020

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: Triple-A Syndrome (TAS) is a rare autosomal recessive disorder characterized by three cardinal symptoms: alacrimia, achalasia and adrenal insufficiency due to ACTH insensitivity. Various progressive neurological abnormalities and skin changes have been described in association with the syndrome. The disease is caused by mutation in the AAAS gene on chromosome 12q13. Mutations in AAAS were identified in more than 90% of individuals and families with TAS. The protein encoded by AAAS was termed ALADIN and is part of the WD repeat family of proteins, that have been found to be involved in many different functions such as protein-protein interaction, RNA processing, cytoskeleton assembly, control of cell division, signal transduction and apoptosis. Immunohistochemical analysis showed that mutated or truncated ALADIN localizes to the cytoplasm rather than to the nuclear pore complex. The exact function of ALADIN and the mechanisms that lead to the ACTH-resistant adrenal phenotype remains largely unknown. Nonetheless, recent studies provided some insights on the role of ALADIN as a member of the Nuclear Pore Complex not only implicated in the import of proteins involved in DNA repair and oxidative stress homeostasis but also in the strengthening of the mitotic spindle assembly. Early identification of the syndrome is challenging, given the rarity of the condition and high phenotypic heterogeneity even among members of the same family. In this review, we aim to summarize the current knowledge of clinical and molecular profile of patients with TAS and recommendations for the diagnosis, management, and follow-up of patients.

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Clinical and genetic characterisation of a series of patients with triple A syndrome

Cited by 23 publications

References 20 publications

Sporadic Triple A (Allgrove) Syndrome with Novel Tandem Mutations

Sporadic Triple A (Allgrove) Syndrome with Novel Tandem Mutations

Triple A syndrome (Allgrove syndrome) – A journey from clinical symptoms to a syndrome

Triple-A Syndrome (TAS): An In-Depth Overview on Genetic and Phenotype Heterogeneity

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