title: Clinical and novel molecular findings in a 6.8-year-old Turkish boy with triple A syndrome.
abstract: BACKGROUND
  The triple A syndrome is characterized by the main features adrenal insufficiency, achalasia and alacrima. Other organ systems can be involved in a variable manner.
  
  
  METHODS
  We report clinical and novel molecular findings in a 6.8-year-old Kurdish boy, who presented with relapsing vomiting and failure to thrive. He was diagnosed as having achalasia and primary adrenocortical hypofunction. History and clinical examination showed that the boy was unable to produce tears. In addition, a large number of associated neurological and dermatological features was present in this patient. Thus, the clinical diagnosis of triple A syndrome was made.
  
  
  RESULTS
  Initial molecular marker analysis supported linkage to the triple A critical region on chromosome 12q13. Further, a homozygous G -->A transition in exon 9 of the newly identified AAAS gene, resulting in a stop codon (W295X) and predicting a truncated protein with loss of function, confirmed the diagnosis. This new mutation was also detected in another family of Kurdish origin. In turned out that both families were related.
authors.affiliation: Department of Hematology/Oncology and Endocrinology, University Children's Hospital, Essen, Germany.
authors.forename: K
authors.initials: K
authors.lastname: Schmittmann-Ohters
authors.forename: A
authors.initials: A
authors.lastname: Huebner
authors.forename: A
authors.initials: A
authors.lastname: Richter-Unruh
authors.forename: B P
authors.initials: BP
authors.lastname: Hauffa
mesh_terms: D000309:Adrenal Insufficiency / Q000235:genetics* / Q000503:physiopathology*; D001483:Base Sequence / Q000235:genetics; D002648:Child; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D005006:Ethnicity / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005767:Gastrointestinal Diseases / Q000235:genetics* / Q000503:physiopathology*; D008040:Genetic Linkage; D006720:Homozygote; D006801:Humans; D007766:Lacrimal Apparatus Diseases / Q000235:genetics* / Q000503:physiopathology*; D008297:Male; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D013577:Syndrome; D014421:Turkey
chemical_list: C416506:AAAS protein, human; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins; D011506:Proteins