title: Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases.
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.
authors.affiliation: Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, Beijing 100045, P.R. China.
authors.forename: Wenjing
authors.initials: W
authors.lastname: Li
authors.affiliation: Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, Beijing 100045, P.R. China.
authors.forename: Chunxiu
authors.initials: C
authors.lastname: Gong
authors.affiliation: Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, Beijing 100045, P.R. China.
authors.forename: Zhan
authors.initials: Z
authors.lastname: Qi
authors.affiliation: Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, Beijing 100045, P.R. China.
authors.forename: D I
authors.initials: DI
authors.lastname: Wu
authors.affiliation: Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, Beijing 100045, P.R. China.
authors.forename: Bingyan
authors.initials: B
authors.lastname: Cao
keywords: AAAS gene; Allgrove syndrome; Chinese; genetic analysis