Document Detail


Triple A syndrome: a novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency.
MedLine Citation:
PMID:  20051279     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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).
Authors:
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:
Type:  Case Reports; Journal Article     Date:  2010-01-06
Journal Detail:
Title:  Journal of the neurological sciences     Volume:  290     ISSN:  1878-5883     ISO Abbreviation:  J. Neurol. Sci.     Publication Date:  2010 Mar 
Date Detail:
Created Date:  2010-02-01     Completed Date:  2010-05-13     Revised Date:  2014-02-19    
Medline Journal Info:
Nlm Unique ID:  0375403     Medline TA:  J Neurol Sci     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  150-2     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adrenal Insufficiency / 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
Grant Support
ID/Acronym/Agency:
G0802760//Medical Research Council
Chemical
Reg. No./Substance:
0/AAAS protein, human; 0/Nerve Tissue Proteins; 0/Nuclear Pore Complex Proteins; 0/RNA Splice Sites

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