title: Clinical and genetic characterization of a Chinese patient with triple A syndrome and novel compound heterozygous mutations in the AAAS gene.
abstract: BACKGROUND
  Triple A syndrome is a rare autosomal recessive disease characterized by adrenal failure, alacrima, achalasia, and progressive neurologic symptoms.
  
  
  OBJECTIVE
  Here, we describe the clinical and genetic characteristics in a Chinese patient with novel mutations in the AAAS gene.
  
  
  METHODS
  The clinical and radiologic characteristics of the patient have been fully described. The coding sequences, including exon-intron boundaries, were amplified from genomic DNA and were sequenced.
  
  
  RESULTS
  The clinical and radiologic findings of the patient are fully described. The sequencing of the AAAS gene detected two novel heterozygous mutations, including a c.577C>T, p.Gln193X in exon 7 and a novel frameshift mutation c.1062_1063insAC, p.Ser355fsX416 in exon 11. The testing of parents confirmed their heterozygous carrier status.
  
  
  CONCLUSIONS
  There are significant clinical variability and mutational heterogeneities in Asian patients with this syndrome. DNA analysis is very helpful in establishing the final diagnosis of triple A syndrome, although its implication in the prediction of clinical expression and the outcome of the disorder is limited.
authors: Department of Endocrinology, Peking Union Medical College Hospital, Beijing, China.
authors: Hongbo
authors: H
authors: Yang
authors: Huabing
authors: H
authors: Zhang
authors: Lin
authors: L
authors: Lu
authors: Ou
authors: O
authors: Wang
authors: Xiaoping
authors: X
authors: Xing
authors: Mingzhu
authors: M
authors: Zhang
authors: Zhaolin
authors: Z
authors: Lu
mesh_terms: D000309:Adrenal Insufficiency / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D002675:Child, Preschool; D004931:Esophageal Achalasia / Q000235:genetics*; D016368:Frameshift Mutation / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D028861:Nuclear Pore Complex Proteins / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*
chemical_list: C416506:AAAS protein, human; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins