A Case of Allgrove Syndrome with a Novel IVS7 +1 G>A Mutation of The AAAS Gene

• DOI: 10.1297/cpe.21.11
• Publication Date: 2012-02-08T07:12:13Z
• Authors: Satoru Ikemoto; Ken Sakurai; Naruo Kuwashima; Yoshihiro Saito; Ichiro Miyata; Noriyuki Katsumata; Hiroyuki Ida
• Keywords: Mutation-in-Brief; 0303 health sciences; 03 medical and health sciences; 3. Good health

Allgrove syndrome, also known as triple A syndrome (OMIM #231550), is a rare autosomal recessive disorder characterized by the triad of adrenocorticotropic hormone (ACTH)-resistant adrenal insufficiency, achalasia and alacrima. It caused mutations AAAS gene, which located on chromosome 12q13, encoding WD-repeat protein ALADIN (alacrima-achalasia-adrenal insufficiency neurologic disorder) (1). Herein, we present case two-year-old girl with genetically confirmed diagnosis resulting from novel homozygous mutation gene.