Phenotypic heterogeneity in AAAS gene mutation
P Barat, C Goizet, A Tullio-Pelet, O Puel, C Labessan, A Barthelemy
. 2007; :
DOI: 10.1111/j.1651-2227.2004.tb02760.x
Lire sur PubMed
. 2007; :
DOI: 10.1111/j.1651-2227.2004.tb02760.x
Lire sur PubMed
Barat P(1), Goizet C, Tullio-Pelet A, Puel O, Labessan C, Barthelemy A.
Author information:
(1)Department of Paediatrics, Hôpital Pellegrin-Enfants, Bordeaux, France.
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.