title: Heterogeneity of the triple A syndrome and assessment of a case.
abstract: Allgrove syndrome (triple A syndrome) is a rare autosomal recessive disorder characterized by achalasia, alacrima, adrenal insufficiency, and--occasionally--autonomic instability. Disease causing mutations have been found in the AAAS gene on 12q13, but no strong phenotype-genotype correlation could be found. We present a 28 year-old woman with classical systemic features of triple A syndrome with prominent neurological dysfunctions/deficits, including distal muscular atrophy, progressive muscle weakness and wasting of both legs, sensibility dysfunction, hyperreflexia and autonomic dysfunction presented with excessive sweating. DNA sequencing of the AAAS gene revealed compound heterozygosity for previously reported mutations. A similar genotype was previously reported, but with a remarkably different phenotype.
authors.affiliation: Division of Medical Genetics, Department of Obstetrics and Gynecology, UMC, Slajmerjeva 3, SI-1000 Ljubljana, Slovenia.
authors.forename: L
authors.initials: L
authors.lastname: Lovrecić
authors.forename: A
authors.initials: A
authors.lastname: Pelet
authors.forename: B
authors.initials: B
authors.lastname: Peterlin
mesh_terms: D000328:Adult; D001284:Atrophy / Q000150:complications / Q000473:pathology; D001342:Autonomic Nervous System Diseases / Q000150:complications / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D004106:Dilatation / Q000295:instrumentation; D004931:Esophageal Achalasia / Q000150:complications / Q000235:genetics* / Q000628:therapy; D005260:Female; D005756:Gastritis / Q000150:complications / Q000235:genetics; D018740:Genetic Heterogeneity; D006801:Humans; D007766:Lacrimal Apparatus Diseases / Q000150:complications / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics; D013577:Syndrome
chemical_list: C416506:AAAS protein, human; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins