Haploinsufficiency of the SERPINA6 gene is associated with severe muscle fatigue: A de novo mutation in corticosteroid-binding globulin deficiency.
Identifieur interne : 001406 ( Main/Merge ); précédent : 001405; suivant : 001407Haploinsufficiency 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
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 000658
- to stream PubMed, to step Curation: 000658
- to stream PubMed, to step Checkpoint: 000658
- to stream Ncbi, to step Merge: 000260
- to stream Ncbi, to step Curation: 000260
- to stream Ncbi, to step Checkpoint: 000260
Links to Exploration step
pubmed:17245537Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Haploinsufficiency of the SERPINA6 gene is associated with severe muscle fatigue: A de novo mutation in corticosteroid-binding globulin deficiency.</title><author><name sortKey="Buss, C" sort="Buss, C" uniqKey="Buss C" first="C" last="Buss">C. Buss</name><affiliation wicri:level="4"><nlm:affiliation>Department of Clinical and Theoretical Psychobiology, University of Trier, Trier, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Clinical and Theoretical Psychobiology, University of Trier, Trier</wicri:regionArea><wicri:noRegion>Trier</wicri:noRegion><orgName type="university">Université de Trèves</orgName><placeName><settlement type="city">Trèves (Allemagne)</settlement><region type="land" nuts="1">Rhénanie-Palatinat</region></placeName></affiliation></author><author><name sortKey="Schuelter, U" sort="Schuelter, U" uniqKey="Schuelter U" first="U" last="Schuelter">U. Schuelter</name></author><author><name sortKey="Hesse, J" sort="Hesse, J" uniqKey="Hesse J" first="J" last="Hesse">J. Hesse</name></author><author><name sortKey="Moser, D" sort="Moser, D" uniqKey="Moser D" first="D" last="Moser">D. Moser</name></author><author><name sortKey="Phillips, D I" sort="Phillips, D I" uniqKey="Phillips D" first="D I" last="Phillips">D I Phillips</name></author><author><name sortKey="Hellhammer, D" sort="Hellhammer, D" uniqKey="Hellhammer D" first="D" last="Hellhammer">D. Hellhammer</name></author><author><name sortKey="Meyer, J" sort="Meyer, J" uniqKey="Meyer J" first="J" last="Meyer">J. Meyer</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="RBID">pubmed:17245537</idno><idno type="pmid">17245537</idno><idno type="doi">10.1007/s00702-006-0620-5</idno><idno type="wicri:Area/PubMed/Corpus">000658</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000658</idno><idno type="wicri:Area/PubMed/Curation">000658</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000658</idno><idno type="wicri:Area/PubMed/Checkpoint">000658</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000658</idno><idno type="wicri:Area/Ncbi/Merge">000260</idno><idno type="wicri:Area/Ncbi/Curation">000260</idno><idno type="wicri:Area/Ncbi/Checkpoint">000260</idno><idno type="wicri:doubleKey">0300-9564:2007:Buss C:haploinsufficiency:of:the</idno><idno type="wicri:Area/Main/Merge">001406</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Haploinsufficiency of the SERPINA6 gene is associated with severe muscle fatigue: A de novo mutation in corticosteroid-binding globulin deficiency.</title><author><name sortKey="Buss, C" sort="Buss, C" uniqKey="Buss C" first="C" last="Buss">C. Buss</name><affiliation wicri:level="4"><nlm:affiliation>Department of Clinical and Theoretical Psychobiology, University of Trier, Trier, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Clinical and Theoretical Psychobiology, University of Trier, Trier</wicri:regionArea><wicri:noRegion>Trier</wicri:noRegion><orgName type="university">Université de Trèves</orgName><placeName><settlement type="city">Trèves (Allemagne)</settlement><region type="land" nuts="1">Rhénanie-Palatinat</region></placeName></affiliation></author><author><name sortKey="Schuelter, U" sort="Schuelter, U" uniqKey="Schuelter U" first="U" last="Schuelter">U. Schuelter</name></author><author><name sortKey="Hesse, J" sort="Hesse, J" uniqKey="Hesse J" first="J" last="Hesse">J. Hesse</name></author><author><name sortKey="Moser, D" sort="Moser, D" uniqKey="Moser D" first="D" last="Moser">D. Moser</name></author><author><name sortKey="Phillips, D I" sort="Phillips, D I" uniqKey="Phillips D" first="D I" last="Phillips">D I Phillips</name></author><author><name sortKey="Hellhammer, D" sort="Hellhammer, D" uniqKey="Hellhammer D" first="D" last="Hellhammer">D. Hellhammer</name></author><author><name sortKey="Meyer, J" sort="Meyer, J" uniqKey="Meyer J" first="J" last="Meyer">J. Meyer</name></author></analytic><series><title level="j">Journal of neural transmission (Vienna, Austria : 1996)</title><idno type="ISSN">0300-9564</idno><imprint><date when="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Amino Acid Substitution (genetics)</term><term>DNA Mutational Analysis</term><term>Genetic Markers (genetics)</term><term>Genetic Predisposition to Disease (genetics)</term><term>Genotype</term><term>Haplotypes</term><term>Humans</term><term>Hydrocortisone (metabolism)</term><term>Male</term><term>Muscle Fatigue (genetics)</term><term>Muscle, Skeletal (metabolism)</term><term>Muscle, Skeletal (physiopathology)</term><term>Muscular Diseases (genetics)</term><term>Muscular Diseases (metabolism)</term><term>Muscular Diseases (physiopathology)</term><term>Mutation (genetics)</term><term>Saliva (metabolism)</term><term>Serpins (deficiency)</term><term>Serpins (genetics)</term><term>Transcortin</term></keywords><keywords scheme="MESH" type="chemical" qualifier="deficiency" xml:lang="en"><term>Serpins</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Genetic Markers</term><term>Serpins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Amino Acid Substitution</term><term>Genetic Predisposition to Disease</term><term>Muscle Fatigue</term><term>Muscular Diseases</term><term>Mutation</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Hydrocortisone</term><term>Muscle, Skeletal</term><term>Muscular Diseases</term><term>Saliva</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Muscle, Skeletal</term><term>Muscular Diseases</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>DNA Mutational Analysis</term><term>Genotype</term><term>Haplotypes</term><term>Humans</term><term>Male</term><term>Transcortin</term></keywords></textClass></profileDesc></teiHeader><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></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Rhénanie/explor/UnivTrevesV1/Data/Main/Merge
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001406 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Merge/biblio.hfd -nk 001406 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Rhénanie
|area= UnivTrevesV1
|flux= Main
|étape= Merge
|type= RBID
|clé= pubmed:17245537
|texte= Haploinsufficiency of the SERPINA6 gene is associated with severe muscle fatigue: A de novo mutation in corticosteroid-binding globulin deficiency.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Merge/RBID.i -Sk "pubmed:17245537" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Main/Merge/biblio.hfd \
| NlmPubMed2Wicri -a UnivTrevesV1
| This area was generated with Dilib version V0.6.31. |  |