Haploinsufficiency of the SERPINA6 gene is associated with severe muscle fatigue: A de novo mutation in corticosteroid-binding globulin deficiency.
Identifieur interne : 001290 ( Main/Exploration ); précédent : 001289; suivant : 001291Haploinsufficiency of the SERPINA6 gene is associated with severe muscle fatigue: A de novo mutation in corticosteroid-binding globulin deficiency.
Auteurs : C. Buss [Allemagne] ; U. Schuelter ; J. Hesse ; D. Moser ; D I Phillips ; D. Hellhammer ; J. MeyerSource :
- Journal of neural transmission (Vienna, Austria : 1996) [ 0300-9564 ] ; 2007.
English descriptors
- KwdEn :
- 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.
- MESH :
- chemical , deficiency : Serpins.
- chemical , genetics : Genetic Markers, Serpins.
- genetics : Amino Acid Substitution, Genetic Predisposition to Disease, Muscle Fatigue, Muscular Diseases, Mutation.
- chemical , metabolism : Hydrocortisone, Muscle, Skeletal, Muscular Diseases, Saliva.
- physiopathology : Muscle, Skeletal, Muscular Diseases.
- Adult, DNA Mutational Analysis, Genotype, Haplotypes, Humans, Male, Transcortin.
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.
DOI: 10.1007/s00702-006-0620-5
PubMed: 17245537
Affiliations:
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Le document en format XML
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<front><div type="abstract" xml:lang="en">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.</div>
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<name sortKey="Meyer, J" sort="Meyer, J" uniqKey="Meyer J" first="J" last="Meyer">J. Meyer</name>
<name sortKey="Moser, D" sort="Moser, D" uniqKey="Moser D" first="D" last="Moser">D. Moser</name>
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<country name="Allemagne"><region name="Rhénanie-Palatinat"><name sortKey="Buss, C" sort="Buss, C" uniqKey="Buss C" first="C" last="Buss">C. Buss</name>
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