Haploinsufficiency of the SERPINA6 gene is associated with severe muscle fatigue: a de novo mutation in corticosteroid-binding globulin deficiency

Buss, C., Schuelter, U., Hesse, J., Moser, D., Phillips, D.I., Hellhammer, D. and Meyer, J. (2007) Haploinsufficiency of the SERPINA6 gene is associated with severe muscle fatigue: a de novo mutation in corticosteroid-binding globulin deficiency. Journal of Neural Transmission, 114 (5), 563-569. (doi:10.1007/s00702-006-0620-5).

Abstract

Corticosteroid-binding globulin (SERPINA6) deficiency is an extremely rare hereditary disorder characterized by reduced corticosteroid-binding capacity with normal or low plasma corticosteroid-binding globulin concentration, and normal or low basal cortisol levels associated with hypo-/hypertension and muscle fatigue. Here, we present a patient with severe muscle fatigue, normal blood pressure, and abnormal high saliva cortisol levels following a standardized stress test. This patient was found heterozygous for a de novo 367 asparagine-encoding variant of the corticosteroid-binding globulin gene, previously described as "transcortin Lyon". Both parents were homozygous for the ("wildtype") 367 aspartate-encoding allele. To the best of our knowledge, this case represents the first de novo mutation reported for corticosteroid-binding globulin deficiency, implicating a pathogenic role of variants of SERPINA6 in some cases of muscle fatigue.

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