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- Title
Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005.
- Authors
Brooks, B P; Kleta, R; Stuart, C; Tuchman, M; Jeong, A; Stergiopoulos, S G; Bei, T; Bjornson, B; Russell, L; Chanoine, J-P; Tsagarakis, S; Kalsner, Lr; Stratakis, Ca
- Abstract
Triple A syndrome (AAAS, OMIM#231550) is an autosomal recessive condition characterized by adrenal insufficiency, achalasia, alacrima, neurodegeneration and autonomic dysfunction. Mutations in the AAAS gene on chromosome 12q13 have been reported in several subjects with AAAS. Over the last 5 years, we have evaluated six subjects with the clinical diagnosis of AAAS. Three subjects had mutations in the AAAS gene-- including one novel mutation (IVS8+1 G>A)-- and a broad spectrum of clinical presentations. However, three subjects with classic AAAS did not have mutations in the AAAS gene on both alleles. This finding supports the notion of genetic heterogeneity for this disorder, although other genetic mechanisms cannot be excluded.
- Publication
Clinical genetics, 2005, Vol 68, Issue 3, p215
- ISSN
0009-9163
- Publication type
Journal Article
- DOI
10.1111/j.1399-0004.2005.00482.x