| Triple A syndrome: a novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency. | |
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MedLine Citation:
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PMID: 20051279 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Allgrove syndrome (or triple A syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, ACTH-resistant adrenal insufficiency and autonomic/neurological abnormalities. It is caused by mutations in the AAAS gene, located on chromosome 12q13. We describe a 42-year-old patient who presented with neuropathy and was found to have alacrima, achalasia, mild autonomic dysfunction with significant central and peripheral nervous system involvement. She was later diagnosed with oligosymptomatic triple A syndrome. Sequencing of the AAAS gene identified two heterozygous mutations within exon 14 and its donor splice site (p.L430F-c.1288C>T and c.1331+1G>T), one of which is novel. Allgrove syndrome should be suspected in patients with neurological impairment associated with two or more of the main symptoms (alacrima, achalasia or adrenal insufficiency). |
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Authors:
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M Luigetti; A Pizzuti; S Bartoletti; H Houlden; C Pirro; I Bottillo; F Madia; A Conte; P A Tonali; M Sabatelli |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2010-01-06 |
Journal Detail:
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Title: Journal of the neurological sciences Volume: 290 ISSN: 1878-5883 ISO Abbreviation: J. Neurol. Sci. Publication Date: 2010 Mar |
Date Detail:
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Created Date: 2010-02-01 Completed Date: 2010-05-13 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0375403 Medline TA: J Neurol Sci Country: Netherlands |
Other Details:
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Languages: eng Pagination: 150-2 Citation Subset: IM |
Affiliation:
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Institute of Neurology, Catholic University of the Sacred Heart, Rome, Italy. mluigetti@gmail.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adrenal Insufficiency
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ethnology,
genetics*,
metabolism Adult Autonomic Nervous System Diseases / genetics, metabolism, physiopathology DNA Mutational Analysis Esophageal Achalasia / ethnology, genetics*, metabolism Exons / genetics Female Genetic Predisposition to Disease / genetics* Genotype Heterozygote Humans Italy Mutation / genetics* Nerve Tissue Proteins / genetics* Nuclear Pore Complex Proteins / genetics* Peripheral Nervous System Diseases / genetics, metabolism, physiopathology RNA Splice Sites / genetics Syndrome |
| Chemical | |
Reg. No./Substance:
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0/AAAS protein, human; 0/Nerve Tissue Proteins; 0/Nuclear Pore Complex Proteins; 0/RNA Splice Sites |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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