title: Mutations of the AAAS gene in an Indian family with Allgrove's syndrome.
abstract: The triple A or Allgrove's syndrome is an autosomal recessive disorder characterized by the triad of achalasia cardia, alacrima and ACTH resistant adrenocortical insufficiency. Mutations of the Achalasia-Addisonianism-Alacrima-Syndrome (AAAS) gene on chromosome 12q13 are associated with this syndrome. We report an Indian family where two siblings were homozygous for a known mutation of the AAAS gene and presented with the classical triad of symptoms. The mother and the brother were heterozygous and asymptomatic. The affected siblings had iron deficiency anemia and the younger sister had pes cavus and palmoplantar keratosis. Neurological symptoms were absent in both affected children. Recognition of this syndrome can lead to early treatment of adrenal insufficency and genetic counselling.
authors.affiliation: Department of Gastrointestinal Sciences, Christian Medical College, Ida Scudder Road, Vellore 632004, India. ashis@cmcvellore.ac.in
authors.forename: Ashis
authors.initials: A
authors.lastname: Mukhopadhya
authors.forename: Sumita
authors.initials: S
authors.lastname: Danda
authors.forename: Angela
authors.initials: A
authors.lastname: Huebner
authors.forename: Ashok
authors.initials: A
authors.lastname: Chacko
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000224:Addison Disease / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D000293:Adolescent; D004931:Esophageal Achalasia / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007194:India; D007766:Lacrimal Apparatus Diseases / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins / Q000235:genetics*; D013577:Syndrome; D044465:White People / Q000235:genetics
chemical_list: C416506:AAAS protein, human; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins