Publikation
Two patients with an identical novel mutation in the AAAS gene and similar phenotype of triple A (Allgrove) syndrome
Wissenschaftlicher Artikel/Review - 03.03.2010
Krull Ina, Maier Margarete, Bärlocher K, Koehler K, Huebner A, Brändle Michael
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Triple A syndrome, also known as Allgrove syndrome, is a rare autosomal recessive disorder characterized by three cardinal symptoms: adrenal insufficiency due to ACTH insensitivity, achalasia and alacrima. Various progressive neurological abnormalities and skin changes have been described in association with the syndrome. The disease is caused by mutation in the AAAS gene on chromosome 12q13. AAAS encodes a protein named ALADIN which is part of the nuclear pore complex (NPC). The mislocalization of mutated ALADIN proteins in the cytoplasm and/or the nucleus results in an impaired protein function. Phenotypes of previously reported patients with triple A syndrome varied within and between affected families so that no genotype-phenotype could be established.