Haploinsufficiency of the SERPINA6 gene is associated with severe muscle fatigue: A de novo mutation in corticosteroid-binding globulin deficiency.
Identifieur interne : 000640 ( PubMed/Checkpoint ); précédent : 000639; suivant : 000641Haploinsufficiency 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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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. 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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><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">17245537</PMID><DateCreated><Year>2007</Year><Month>04</Month><Day>25</Day></DateCreated><DateCompleted><Year>2007</Year><Month>10</Month><Day>09</Day></DateCompleted><DateRevised><Year>2016</Year><Month>11</Month><Day>22</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Print">0300-9564</ISSN><JournalIssue CitedMedium="Print"><Volume>114</Volume><Issue>5</Issue><PubDate><Year>2007</Year></PubDate></JournalIssue><Title>Journal of neural transmission (Vienna, Austria : 1996)</Title><ISOAbbreviation>J Neural Transm (Vienna)</ISOAbbreviation></Journal><ArticleTitle>Haploinsufficiency of the SERPINA6 gene is associated with severe muscle fatigue: A de novo mutation in corticosteroid-binding globulin deficiency.</ArticleTitle><Pagination><MedlinePgn>563-9</MedlinePgn></Pagination><Abstract><AbstractText>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.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Buss</LastName><ForeName>C</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Department of Clinical and Theoretical Psychobiology, University of Trier, Trier, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Schuelter</LastName><ForeName>U</ForeName><Initials>U</Initials></Author><Author ValidYN="Y"><LastName>Hesse</LastName><ForeName>J</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Moser</LastName><ForeName>D</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Phillips</LastName><ForeName>D I</ForeName><Initials>DI</Initials></Author><Author ValidYN="Y"><LastName>Hellhammer</LastName><ForeName>D</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Meyer</LastName><ForeName>J</ForeName><Initials>J</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>MC_U147585824</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>MC_UP_A620_1014</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2007</Year><Month>01</Month><Day>25</Day></ArticleDate></Article><MedlineJournalInfo><Country>Austria</Country><MedlineTA>J Neural Transm (Vienna)</MedlineTA><NlmUniqueID>9702341</NlmUniqueID><ISSNLinking>0300-9564</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D005819">Genetic Markers</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C534935">SERPINA6 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D015843">Serpins</NameOfSubstance></Chemical><Chemical><RegistryNumber>9010-38-2</RegistryNumber><NameOfSubstance UI="D014156">Transcortin</NameOfSubstance></Chemical><Chemical><RegistryNumber>WI4X0X7BPJ</RegistryNumber><NameOfSubstance UI="D006854">Hydrocortisone</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D019943" MajorTopicYN="N">Amino Acid 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MajorTopicYN="N">Mutation</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D012463" MajorTopicYN="N">Saliva</DescriptorName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D015843" MajorTopicYN="N">Serpins</DescriptorName><QualifierName UI="Q000172" MajorTopicYN="Y">deficiency</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D014156" MajorTopicYN="N">Transcortin</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2006</Year><Month>06</Month><Day>27</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2006</Year><Month>12</Month><Day>16</Day></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2007</Year><Month>1</Month><Day>25</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2007</Year><Month>10</Month><Day>10</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2007</Year><Month>1</Month><Day>25</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">17245537</ArticleId><ArticleId IdType="doi">10.1007/s00702-006-0620-5</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Allemagne</li></country><region><li>Rhénanie-Palatinat</li></region><settlement><li>Trèves (Allemagne)</li></settlement><orgName><li>Université de Trèves</li></orgName></list><tree><noCountry><name sortKey="Hellhammer, D" sort="Hellhammer, D" uniqKey="Hellhammer D" first="D" last="Hellhammer">D. Hellhammer</name><name sortKey="Hesse, J" sort="Hesse, J" uniqKey="Hesse J" first="J" last="Hesse">J. Hesse</name><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><name sortKey="Phillips, D I" sort="Phillips, D I" uniqKey="Phillips D" first="D I" last="Phillips">D I Phillips</name><name sortKey="Schuelter, U" sort="Schuelter, U" uniqKey="Schuelter U" first="U" last="Schuelter">U. Schuelter</name></noCountry><country name="Allemagne"><region name="Rhénanie-Palatinat"><name sortKey="Buss, C" sort="Buss, C" uniqKey="Buss C" first="C" last="Buss">C. Buss</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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