Open Access

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

  • Authors:
    • Wenjing Li
    • Chunxiu Gong
    • Zhan Qi
    • Di Wu
    • Bingyan Cao
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  • Published online on: August 10, 2015     https://doi.org/10.3892/etm.2015.2677
  • Pages: 1277-1282
  • Copyright: © Li et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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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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October-2015
Volume 10 Issue 4

Print ISSN: 1792-0981
Online ISSN:1792-1015

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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