Phenotypic heterogeneity in AAAS gene mutation.
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.


CONCLUSIONS
Our observations corroborate the phenotypic heterogeneity reported in triple A syndrome, and underline the possibility of a variable intra-familial expression.
Barat
P
P
Department of Paediatrics, Hôpital Pellegrin-Enfants, Bordeaux, France. baratp@club-internet.fr
Goizet
C
C
Tullio-Pelet
A
A
Puel
O
O
Labessan
C
C
Barthelemy
A
A
D000309:Adrenal Insufficiency / Q000235:genetics*; D002648:Child; D004931:Esophageal Achalasia / Q000235:genetics*; D005260:Female; D018740:Genetic Heterogeneity; D006801:Humans; D007766:Lacrimal Apparatus Diseases / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D013577:Syndrome
C416506:AAAS protein, human; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins; D011506:Proteins