Two patients with an identical novel mutation in the AAAS gene and similar phenotype of triple A (Allgrove) syndrome

Publication

Two patients with an identical novel mutation in the AAAS gene and similar phenotype of triple A (Allgrove) syndrome

Journal Paper/Review - Mar 3, 2010

Krull Ina, Maier Margarete, Bärlocher K, Koehler K, Huebner A, Brändle Michael

Citation

Krull I, Maier M, Bärlocher K, Koehler K, Huebner A, Brändle M. Two patients with an identical novel mutation in the AAAS gene and similar phenotype of triple A (Allgrove) syndrome. Exp Clin Endocrinol Diabetes 2010; 118:530-6.

Type

Journal Paper/Review (English)

Journal

Exp Clin Endocrinol Diabetes 2010; 118

Publication Date

Mar 3, 2010

Issn Electronic

1439-3646

Pages

530-6

Brief description/objective

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.