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Phenotypic heterogeneity in AAAS gene mutation
Author(s) -
Barat P,
Goizet C,
TullioPelet A,
Puel O,
Labessan C,
Barthelemy A
Publication year - 2004
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2004.tb02760.x
Subject(s) - phenotype , medicine , genetic heterogeneity , mutation , variable expression , genetics , adrenal insufficiency , gene , biology
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.