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Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases

  • Authors:
    • Wenjing Li
    • Chunxiu Gong
    • Zhan Qi
    • Di Wu
    • Bingyan Cao
  • View Affiliations / Copyright

    Affiliations: Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, Beijing 100045, P.R. China
    Copyright: © Li et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 1277-1282
    |
    Published online on: August 10, 2015
       https://doi.org/10.3892/etm.2015.2677
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Abstract

Allgrove syndrome (AS) is an autosomal recessive congenital disease, caused by mutations in the AAAS gene, and is characterized by the triad of Addison's disease, achalasia and alacrima. The present study describes three newly diagnosed cases of AS, in which genetic analysis of the AAAS gene was used to identify AAAS gene mutations, to enhance the understanding of the pathogenesis and clinical manifestations of AS in the Chinese population. Two of the cases exhibited homozygous mutations of c.771delG (p.Arg258GlyfsX33) in exon 8 and one case exhibited a homozygous mutation of c.1366C>T (p.Q456X) in exon 15. A review of the current literature suggests that the AAAS c.771delG mutation has only been reported in the Chinese population. Genetic analysis of the AAAS gene in Chinese AS patients at a young age may facilitate an earlier diagnosis and the timely initiation of the appropriate treatment, ultimately improving the patient outcome.
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Copy and paste a formatted citation
Spandidos Publications style
Li W, Gong C, Qi Z, Wu D and Cao B: Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases. Exp Ther Med 10: 1277-1282, 2015.
APA
Li, W., Gong, C., Qi, Z., Wu, D., & Cao, B. (2015). Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases. Experimental and Therapeutic Medicine, 10, 1277-1282. https://doi.org/10.3892/etm.2015.2677
MLA
Li, W., Gong, C., Qi, Z., Wu, D., Cao, B."Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases". Experimental and Therapeutic Medicine 10.4 (2015): 1277-1282.
Chicago
Li, W., Gong, C., Qi, Z., Wu, D., Cao, B."Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases". Experimental and Therapeutic Medicine 10, no. 4 (2015): 1277-1282. https://doi.org/10.3892/etm.2015.2677
Copy and paste a formatted citation
x
Spandidos Publications style
Li W, Gong C, Qi Z, Wu D and Cao B: Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases. Exp Ther Med 10: 1277-1282, 2015.
APA
Li, W., Gong, C., Qi, Z., Wu, D., & Cao, B. (2015). Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases. Experimental and Therapeutic Medicine, 10, 1277-1282. https://doi.org/10.3892/etm.2015.2677
MLA
Li, W., Gong, C., Qi, Z., Wu, D., Cao, B."Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases". Experimental and Therapeutic Medicine 10.4 (2015): 1277-1282.
Chicago
Li, W., Gong, C., Qi, Z., Wu, D., Cao, B."Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases". Experimental and Therapeutic Medicine 10, no. 4 (2015): 1277-1282. https://doi.org/10.3892/etm.2015.2677
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