GJC2 missense mutations cause human lymphedema.
Identifieur interne : 002A42 ( PubMed/Curation ); précédent : 002A41; suivant : 002A43GJC2 missense mutations cause human lymphedema.
Auteurs : Robert E. Ferrell [États-Unis] ; Catherine J. Baty ; Mark A. Kimak ; Jenny M. Karlsson ; Elizabeth C. Lawrence ; Marlise Franke-Snyder ; Stephen D. Meriney ; Eleanor Feingold ; David N. FinegoldSource :
- American journal of human genetics [ 1537-6605 ] ; 2010.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Adulte d'âge moyen, Alignement de séquences, Connexines (génétique), Données de séquences moléculaires, Enfant, Enfant d'âge préscolaire, Femelle, Humains, Lymphoedème (génétique), Modèles moléculaires, Mutation faux-sens, Mâle, Pedigree, Sujet âgé, Sujet âgé de 80 ans ou plus, Séquence d'acides aminés, Séquence nucléotidique.
- MESH :
- génétique : Connexines, Lymphoedème.
- Adolescent, Adulte, Adulte d'âge moyen, Alignement de séquences, Données de séquences moléculaires, Enfant, Enfant d'âge préscolaire, Femelle, Humains, Modèles moléculaires, Mutation faux-sens, Mâle, Pedigree, Sujet âgé, Sujet âgé de 80 ans ou plus, Séquence d'acides aminés, Séquence nucléotidique.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Connexins.
- genetics : Lymphedema.
- Adolescent, Adult, Aged, Aged, 80 and over, Amino Acid Sequence, Base Sequence, Child, Child, Preschool, Female, Humans, Male, Middle Aged, Models, Molecular, Molecular Sequence Data, Mutation, Missense, Pedigree, Sequence Alignment.
Abstract
Lymphedema is the clinical manifestation of defects in lymphatic structure or function. Mutations identified in genes regulating lymphatic development result in inherited lymphedema. No mutations have yet been identified in genes mediating lymphatic function that result in inherited lymphedema. Survey microarray studies comparing lymphatic and blood endothelial cells identified expression of several connexins in lymphatic endothelial cells. Additionally, gap junctions are implicated in maintaining lymphatic flow. By sequencing GJA1, GJA4, and GJC2 in a group of families with dominantly inherited lymphedema, we identified six probands with unique missense mutations in GJC2 (encoding connexin [Cx] 47). Two larger families cosegregate lymphedema and GJC2 mutation (LOD score = 6.5). We hypothesize that missense mutations in GJC2 alter gap junction function and disrupt lymphatic flow. Until now, GJC2 mutations were only thought to cause dysmyelination, with primary expression of Cx47 limited to the central nervous system. The identification of GJC2 mutations as a cause of primary lymphedema raises the possibility of novel gap-junction-modifying agents as potential therapy for some forms of lymphedema.
DOI: 10.1016/j.ajhg.2010.04.010
PubMed: 20537300
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pubmed:20537300Le document en format XML
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Ferrell</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261</wicri:regionArea></affiliation></author><author><name sortKey="Baty, Catherine J" sort="Baty, Catherine J" uniqKey="Baty C" first="Catherine J" last="Baty">Catherine J. Baty</name></author><author><name sortKey="Kimak, Mark A" sort="Kimak, Mark A" uniqKey="Kimak M" first="Mark A" last="Kimak">Mark A. Kimak</name></author><author><name sortKey="Karlsson, Jenny M" sort="Karlsson, Jenny M" uniqKey="Karlsson J" first="Jenny M" last="Karlsson">Jenny M. Karlsson</name></author><author><name sortKey="Lawrence, Elizabeth C" sort="Lawrence, Elizabeth C" uniqKey="Lawrence E" first="Elizabeth C" last="Lawrence">Elizabeth C. Lawrence</name></author><author><name sortKey="Franke Snyder, Marlise" sort="Franke Snyder, Marlise" uniqKey="Franke Snyder M" first="Marlise" last="Franke-Snyder">Marlise Franke-Snyder</name></author><author><name sortKey="Meriney, Stephen D" sort="Meriney, Stephen D" uniqKey="Meriney S" first="Stephen D" last="Meriney">Stephen D. Meriney</name></author><author><name sortKey="Feingold, Eleanor" sort="Feingold, Eleanor" uniqKey="Feingold E" first="Eleanor" last="Feingold">Eleanor Feingold</name></author><author><name sortKey="Finegold, David N" sort="Finegold, David N" uniqKey="Finegold D" first="David N" last="Finegold">David N. Finegold</name></author></analytic><series><title level="j">American journal of human genetics</title><idno type="eISSN">1537-6605</idno><imprint><date when="2010" type="published">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Amino Acid Sequence</term><term>Base Sequence</term><term>Child</term><term>Child, Preschool</term><term>Connexins (genetics)</term><term>Female</term><term>Humans</term><term>Lymphedema (genetics)</term><term>Male</term><term>Middle Aged</term><term>Models, Molecular</term><term>Molecular Sequence Data</term><term>Mutation, Missense</term><term>Pedigree</term><term>Sequence Alignment</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Adulte d'âge moyen</term><term>Alignement de séquences</term><term>Connexines (génétique)</term><term>Données de séquences moléculaires</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Humains</term><term>Lymphoedème (génétique)</term><term>Modèles moléculaires</term><term>Mutation faux-sens</term><term>Mâle</term><term>Pedigree</term><term>Sujet âgé</term><term>Sujet âgé de 80 ans ou plus</term><term>Séquence d'acides aminés</term><term>Séquence nucléotidique</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Connexins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Connexines</term><term>Lymphoedème</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Amino Acid Sequence</term><term>Base Sequence</term><term>Child</term><term>Child, Preschool</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Models, Molecular</term><term>Molecular Sequence Data</term><term>Mutation, Missense</term><term>Pedigree</term><term>Sequence Alignment</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Adulte d'âge moyen</term><term>Alignement de séquences</term><term>Données de séquences moléculaires</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Humains</term><term>Modèles moléculaires</term><term>Mutation faux-sens</term><term>Mâle</term><term>Pedigree</term><term>Sujet âgé</term><term>Sujet âgé de 80 ans ou plus</term><term>Séquence d'acides aminés</term><term>Séquence nucléotidique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Lymphedema is the clinical manifestation of defects in lymphatic structure or function. Mutations identified in genes regulating lymphatic development result in inherited lymphedema. No mutations have yet been identified in genes mediating lymphatic function that result in inherited lymphedema. Survey microarray studies comparing lymphatic and blood endothelial cells identified expression of several connexins in lymphatic endothelial cells. Additionally, gap junctions are implicated in maintaining lymphatic flow. By sequencing GJA1, GJA4, and GJC2 in a group of families with dominantly inherited lymphedema, we identified six probands with unique missense mutations in GJC2 (encoding connexin [Cx] 47). Two larger families cosegregate lymphedema and GJC2 mutation (LOD score = 6.5). We hypothesize that missense mutations in GJC2 alter gap junction function and disrupt lymphatic flow. Until now, GJC2 mutations were only thought to cause dysmyelination, with primary expression of Cx47 limited to the central nervous system. The identification of GJC2 mutations as a cause of primary lymphedema raises the possibility of novel gap-junction-modifying agents as potential therapy for some forms of lymphedema.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">20537300</PMID><DateCreated><Year>2010</Year><Month>06</Month><Day>14</Day></DateCreated><DateCompleted><Year>2010</Year><Month>06</Month><Day>29</Day></DateCompleted><DateRevised><Year>2016</Year><Month>10</Month><Day>19</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1537-6605</ISSN><JournalIssue CitedMedium="Internet"><Volume>86</Volume><Issue>6</Issue><PubDate><Year>2010</Year><Month>Jun</Month><Day>11</Day></PubDate></JournalIssue><Title>American journal of human genetics</Title><ISOAbbreviation>Am. J. Hum. Genet.</ISOAbbreviation></Journal><ArticleTitle>GJC2 missense mutations cause human lymphedema.</ArticleTitle><Pagination><MedlinePgn>943-8</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1016/j.ajhg.2010.04.010</ELocationID><Abstract><AbstractText>Lymphedema is the clinical manifestation of defects in lymphatic structure or function. Mutations identified in genes regulating lymphatic development result in inherited lymphedema. No mutations have yet been identified in genes mediating lymphatic function that result in inherited lymphedema. Survey microarray studies comparing lymphatic and blood endothelial cells identified expression of several connexins in lymphatic endothelial cells. Additionally, gap junctions are implicated in maintaining lymphatic flow. By sequencing GJA1, GJA4, and GJC2 in a group of families with dominantly inherited lymphedema, we identified six probands with unique missense mutations in GJC2 (encoding connexin [Cx] 47). Two larger families cosegregate lymphedema and GJC2 mutation (LOD score = 6.5). We hypothesize that missense mutations in GJC2 alter gap junction function and disrupt lymphatic flow. Until now, GJC2 mutations were only thought to cause dysmyelination, with primary expression of Cx47 limited to the central nervous system. The identification of GJC2 mutations as a cause of primary lymphedema raises the possibility of novel gap-junction-modifying agents as potential therapy for some forms of lymphedema.</AbstractText><CopyrightInformation>Copyright 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Ferrell</LastName><ForeName>Robert E</ForeName><Initials>RE</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Baty</LastName><ForeName>Catherine J</ForeName><Initials>CJ</Initials></Author><Author ValidYN="Y"><LastName>Kimak</LastName><ForeName>Mark A</ForeName><Initials>MA</Initials></Author><Author ValidYN="Y"><LastName>Karlsson</LastName><ForeName>Jenny M</ForeName><Initials>JM</Initials></Author><Author ValidYN="Y"><LastName>Lawrence</LastName><ForeName>Elizabeth C</ForeName><Initials>EC</Initials></Author><Author ValidYN="Y"><LastName>Franke-Snyder</LastName><ForeName>Marlise</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Meriney</LastName><ForeName>Stephen D</ForeName><Initials>SD</Initials></Author><Author ValidYN="Y"><LastName>Feingold</LastName><ForeName>Eleanor</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Finegold</LastName><ForeName>David N</ForeName><Initials>DN</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>R01 HD037243</GrantID><Acronym>HD</Acronym><Agency>NICHD NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>R01 HL092866</GrantID><Acronym>HL</Acronym><Agency>NHLBI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>UL1 TR000005</GrantID><Acronym>TR</Acronym><Agency>NCATS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>HD37243</GrantID><Acronym>HD</Acronym><Agency>NICHD NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D052061">Research Support, N.I.H., Extramural</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2010</Year><Month>05</Month><Day>27</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Am J Hum Genet</MedlineTA><NlmUniqueID>0370475</NlmUniqueID><ISSNLinking>0002-9297</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D017630">Connexins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C427305">connexin 47</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Am J Physiol Heart Circ Physiol. 2008 Jan;294(1):H41-9</RefSource><PMID Version="1">17982010</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Ann N Y Acad Sci. 2008;1131:147-54</RefSource><PMID 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MajorTopicYN="N">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002675" MajorTopicYN="N">Child, Preschool</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017630" MajorTopicYN="N">Connexins</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008958" MajorTopicYN="N">Models, Molecular</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008969" MajorTopicYN="N">Molecular Sequence Data</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020125" MajorTopicYN="Y">Mutation, Missense</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016415" MajorTopicYN="N">Sequence Alignment</DescriptorName></MeshHeading></MeshHeadingList><OtherID Source="NLM">PMC3032064</OtherID></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2009</Year><Month>12</Month><Day>03</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2010</Year><Month>04</Month><Day>09</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2010</Year><Month>04</Month><Day>21</Day></PubMedPubDate><PubMedPubDate 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