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

J Neural Transm (Vienna). 2007;114(5):563-9. doi: 10.1007/s00702-006-0620-5. Epub 2007 Jan 25.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amino Acid Substitution / genetics
  • DNA Mutational Analysis
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Haplotypes
  • Humans
  • Hydrocortisone / metabolism
  • Male
  • Muscle Fatigue / genetics*
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / physiopathology
  • Muscular Diseases / genetics*
  • Muscular Diseases / metabolism*
  • Muscular Diseases / physiopathology
  • Mutation / genetics
  • Saliva / metabolism
  • Serpins / deficiency*
  • Serpins / genetics*
  • Transcortin

Substances

  • Genetic Markers
  • SERPINA6 protein, human
  • Serpins
  • Transcortin
  • Hydrocortisone