title: [Allgrove syndrome in the mainland of China: clinical report and mutation analysis].
abstract: OBJECTIVE
  Allgrove syndrome is a rare autosomal recessive disorder characterized by the triad of adrenal insufficiency, achalasia and alacrima and many cases have multi-systems disorder: endocrine, gastrointestinal tract, eyes and nervous system. This syndrome is also known as achalasia-addisonianism-alacrima syndrome or triple A syndrome. Allgrove syndrome is now known to be caused by mutations of AAAS gene encoding the aladin protein. In the present paper, we report a Chinese mainland girl with Allgrove syndrome with mutations in the AAAS gene.
  
  
  METHODS
  The patient was a 7-year-old girl complained of coma and dark skin; she was treated as Addison disease for 2 years and had vomiting for 9 months before the second admission. Gene analysis was performed after extracting genomic DNA by amplification and sequencing of the specific fragments of AAA gene.
  
  
  RESULTS
  The patient was confirmed to have adrenal insufficiency at the age of 5 years and 6 months. During the second hospitalization, she was found to have a remarkable brisk reflexion, bilateral optic nerve atrophy, alacrima and achalasia besides ACTH resistance. The girl was born to consanguineous parents. Based on these findings, she was diagnosed as having Allgrove syndrome. Mutation analysis revealed a novel homozygous deletion of a single G, c.771delG, in exon 8 of the AAAS gene. This frame shift mutation was predicted to create a premature stop codon at locus 290, p.R258GfsX33, leading to a truncated and non-functioning aladin protein. Both the parents were heterozygous for the mutation.
  
  
  CONCLUSIONS
  The clinical manifestations and AAAS gene mutations analysis confirmed the diagnosis of Allgrove syndrome. Gene analysis indicated that this syndrome is an autosomal recessive inherent disorder. ALADIN is significant for the normal cell function. When compared with reported cases, it seems that there are no remarkable relation between gene mutation loci and clinical manifestations in Allgrove syndrome.
authors: Department of Internal Medicine, Beijing Children's Hospital, Capital University of Medical Sciences, Beijing 100045, China.
authors: Chun-xiu
authors: CX
authors: Gong
authors: Ya-ran
authors: YR
authors: Wen
authors: Xiu-li
authors: XL
authors: Zhao
authors: Chang
authors: C
authors: Su
authors: Bing-yan
authors: BY
authors: Cao
authors: Xue
authors: X
authors: Zhang
mesh_terms: D000309:Adrenal Insufficiency / Q000235:genetics*; D000324:Adrenocorticotropic Hormone / Q000097:blood*; D002681:China; D003241:Consanguinity; D004247:DNA / Q000032:analysis; D004252:DNA Mutational Analysis; D004931:Esophageal Achalasia / Q000235:genetics*; D005091:Exons; D005260:Female; D030342:Genetic Diseases, Inborn / Q000235:genetics; D006801:Humans; D007766:Lacrimal Apparatus Diseases / Q000235:genetics*; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D028861:Nuclear Pore Complex Proteins / Q000235:genetics*; D009896:Optic Atrophy / Q000235:genetics / Q000503:physiopathology
chemical_list: C416506:AAAS protein, human; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins; D000324:Adrenocorticotropic Hormone; D004247:DNA