ECE2014 Poster Presentations Calcium and Vitamin D metabolism (68 abstracts)
Novel mutation of the AIRE gene in Iranian patients with autoimmune polyglandular syndrome type 1
Rahim Vakili , Hossain Dehghan Manshadi , Mohhamad Reza Abbaszadegan , Nosrat Ghaemi & Marta Ghaemi
Mashhad University of Medical Sciences, Mashhad, Iran.
Autoimmune pollyendocine type 1 (APS1) is a rare inherited autosomal recessive disorder. Typical symptom appears in within the first decade of life and followed by adrenocortical insufficiency, mucocutaneous candidiasis, Addison’s disease, and hypoparathyroidism. The clinical phenotype of APECEP is depends on mutations in autoimmune regulator gene (AIRE) which mapped to chromosome 21q22.3. We analyzed AIRE gene in subject to identify AIRE gene variants and may new mutations to facilitate the genetic diagnosis of APS1 in Iranian patients. We detect a novel insertion mutation, Lys50AsnfsX168 in exon 2 of one of our patients using bidirectional sequencing. We also identified known mutations Arg139Stop, Arg257Stop, and Leu323SerfsX51 in compound newly discovered mutation. According our report analysis of AIRE gene establishes a useful diagnosis method in patient with incomplete or unusual clinical presentation.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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