title: Three children with triple A syndrome due to a mutation (R478X) in the AAAS gene.
abstract: OBJECTIVE
  To investigate the phenotype and genotype of 3 unrelated children with triple A syndrome from southern Turkey.
  
  
  METHODS
  The coding sequence of the AAAS gene was sequenced including exon-intron boundaries. Haplotype analysis using markers from AAAS region was performed in order to assess potential founder effects.
  
  
  RESULTS
  In all 3 patients, the identical nonsense mutation (R478X) in exon 16 of the AAAS gene was identified. The patients who may be distantly related appeared phenotypically similar with the classical triad of the triple A syndrome (adrenal insufficiency, alacrima and achalasia) with dermatological manifestations while lacking neurological features except for mild mental retardation.
  
  
  CONCLUSIONS
  The R478X mutation tends to result in a rather severe phenotype although genotype-phenotype relationships cannot be drawn due to the small number of patients.
authors.affiliation: Division of Pediatric Endocrinology and Metabolism, Cukurova University, Faculty of Medicine, Adana, Turkey. byuksel@cu.edu.tr
authors.forename: Bilgin
authors.initials: B
authors.lastname: Yuksel
authors.forename: Regina
authors.initials: R
authors.lastname: Braun
authors.forename: A Kemal
authors.initials: AK
authors.lastname: Topaloglu
authors.forename: Neslihan O
authors.initials: NO
authors.lastname: Mungan
authors.forename: Guler
authors.initials: G
authors.lastname: Ozer
authors.forename: Angela
authors.initials: A
authors.lastname: Huebner
mesh_terms: D000309:Adrenal Insufficiency / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D004931:Esophageal Achalasia / Q000235:genetics*; D005091:Exons; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D007766:Lacrimal Apparatus Diseases / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins; D011506:Proteins / Q000235:genetics*; D013577:Syndrome
chemical_list: C416506:AAAS protein, human; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins; D011506:Proteins