Journal of Neural Transmission

, Volume 114, Issue 5, pp 563–569

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

  • C. Buss
  • U. Schuelter
  • J. Hesse
  • D. Moser
  • D. I. Phillips
  • D. Hellhammer
  • J. Meyer
Article

DOI: 10.1007/s00702-006-0620-5

Cite this article as:
Buss, C., Schuelter, U., Hesse, J. et al. J Neural Transm (2007) 114: 563. doi:10.1007/s00702-006-0620-5

Summary.

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.

Keywords: Corticosteroid-binding globulin deficiency, SERPINA6, mutation analysis 

Copyright information

© Springer-Verlag 2007

Authors and Affiliations

  • C. Buss
    • 1
  • U. Schuelter
    • 2
  • J. Hesse
    • 1
  • D. Moser
    • 2
  • D. I. Phillips
    • 3
  • D. Hellhammer
    • 1
  • J. Meyer
    • 2
  1. 1.Department of Clinical and Theoretical PsychobiologyUniversity of TrierTrierGermany
  2. 2.Department of Neuro-Behavioral GeneticsUniversity of TrierTrierGermany
  3. 3.Medical Research CouncilSouthampton General HospitalSouthamptonUK