UNLABELLED: We report the cases of two sibs of North African origin with AAAS gene mutation characterized by the heterogeneity of their phenotype. While an 8-y-old boy presented with acute adrenal insufficiency and mental retardation, the diagnosis was suggested by the clinical history of his 6-y-old sister who had symptomatic achalasia and chronic adrenal failure. CONCLUSION: Our observations corroborate the phenotypic heterogeneity reported in triple A syndrome, and underline the possibility of a variable intra-familial expression.
UNLABELLED: We report the cases of two sibs of North African origin with AAAS gene mutation characterized by the heterogeneity of their phenotype. While an 8-y-old boy presented with acute adrenal insufficiency and mental retardation, the diagnosis was suggested by the clinical history of his 6-y-old sister who had symptomatic achalasia and chronic adrenal failure. CONCLUSION: Our observations corroborate the phenotypic heterogeneity reported in triple A syndrome, and underline the possibility of a variable intra-familial expression.
Authors: Nicholas J Timpson; Jon H Tobias; J Brent Richards; Nicole Soranzo; Emma L Duncan; Anne-Marie Sims; Pamela Whittaker; Vasudev Kumanduri; Guangju Zhai; Beate Glaser; John Eisman; Graeme Jones; Geoff Nicholson; Richard Prince; Ego Seeman; Tim D Spector; Matthew A Brown; Leena Peltonen; George Davey Smith; Panos Deloukas; David M Evans Journal: Hum Mol Genet Date: 2009-01-30 Impact factor: 6.150