Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005
| Autor: | Thalia Bei, Maya Tuchman, Jean-Pierre Chanoine, Sotirios Stergiopoulos, C Stuart, Stylianos Tsagarakis, Constantine A. Stratakis, B Bjornson, Robert Kleta, L Russell, LR Kalsner, Brian P. Brooks, A Jeong |
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| Rok vydání: | 2005 |
| Předmět: |
Genetics
Allgrove Syndrome business.industry Genetic heterogeneity macromolecular substances Triple-A syndrome medicine.disease environment and public health Alacrima Phenotype enzymes and coenzymes (carbohydrates) Genotype cardiovascular system medicine Adrenal insufficiency cardiovascular diseases Allele business Genetics (clinical) |
| Zdroj: | Clinical Genetics. 68:215-221 |
| ISSN: | 0009-9163 |
| DOI: | 10.1111/j.1399-0004.2005.00482.x |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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