Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.
Identifieur interne : 002763 ( PubMed/Curation ); précédent : 002762; suivant : 002764Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.
Auteurs : Pia Ostergaard [Royaume-Uni] ; Michael A. Simpson ; Glen Brice ; Sahar Mansour ; Fiona C. Connell ; Alexandros Onoufriadis ; Anne H. Child ; Jae Hwang ; Kamini Kalidas ; Peter S. Mortimer ; Richard Trembath ; Steve JefferySource :
- Journal of medical genetics [ 1468-6244 ] ; 2011.
Descripteurs français
- KwdFr :
- MESH :
- génétique : Connexines, Maladies lymphatiques.
- Analyse de séquence d'ADN, Femelle, Humains, Liaison génétique, Mutation, Mâle, Pedigree, Phénotype.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Connexins.
- genetics : Lymphatic Diseases.
- Female, Genetic Linkage, Humans, Male, Mutation, Pedigree, Phenotype, Sequence Analysis, DNA.
Abstract
Primary lymphoedema describes a chronic, frequently progressive, failure of lymphatic drainage. This disorder is frequently genetic in origin, and a multigenerational family in which eight individuals developed postnatal lymphoedema of all four limbs was ascertained from the joint Lymphoedema/Genetic clinic at St George's Hospital.
DOI: 10.1136/jmg.2010.085563
PubMed: 21266381
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Simpson</name></author><author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name></author><author><name sortKey="Connell, Fiona C" sort="Connell, Fiona C" uniqKey="Connell F" first="Fiona C" last="Connell">Fiona C. Connell</name></author><author><name sortKey="Onoufriadis, Alexandros" sort="Onoufriadis, Alexandros" uniqKey="Onoufriadis A" first="Alexandros" last="Onoufriadis">Alexandros Onoufriadis</name></author><author><name sortKey="Child, Anne H" sort="Child, Anne H" uniqKey="Child A" first="Anne H" last="Child">Anne H. Child</name></author><author><name sortKey="Hwang, Jae" sort="Hwang, Jae" uniqKey="Hwang J" first="Jae" last="Hwang">Jae Hwang</name></author><author><name sortKey="Kalidas, Kamini" sort="Kalidas, Kamini" uniqKey="Kalidas K" first="Kamini" last="Kalidas">Kamini Kalidas</name></author><author><name sortKey="Mortimer, Peter S" sort="Mortimer, Peter S" uniqKey="Mortimer P" first="Peter S" last="Mortimer">Peter S. Mortimer</name></author><author><name sortKey="Trembath, Richard" sort="Trembath, Richard" uniqKey="Trembath R" first="Richard" last="Trembath">Richard Trembath</name></author><author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2011">2011</date><idno type="RBID">pubmed:21266381</idno><idno type="pmid">21266381</idno><idno type="doi">10.1136/jmg.2010.085563</idno><idno type="wicri:Area/PubMed/Corpus">002763</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002763</idno><idno type="wicri:Area/PubMed/Curation">002763</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">002763</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.</title><author><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name><affiliation wicri:level="1"><nlm:affiliation>Medical Genetics, St George's, University of London, and Guy's Hospital, London SW17 ORE, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Medical Genetics, St George's, University of London, and Guy's Hospital, London SW17 ORE</wicri:regionArea></affiliation></author><author><name sortKey="Simpson, Michael A" sort="Simpson, Michael A" uniqKey="Simpson M" first="Michael A" last="Simpson">Michael A. Simpson</name></author><author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name></author><author><name sortKey="Connell, Fiona C" sort="Connell, Fiona C" uniqKey="Connell F" first="Fiona C" last="Connell">Fiona C. Connell</name></author><author><name sortKey="Onoufriadis, Alexandros" sort="Onoufriadis, Alexandros" uniqKey="Onoufriadis A" first="Alexandros" last="Onoufriadis">Alexandros Onoufriadis</name></author><author><name sortKey="Child, Anne H" sort="Child, Anne H" uniqKey="Child A" first="Anne H" last="Child">Anne H. Child</name></author><author><name sortKey="Hwang, Jae" sort="Hwang, Jae" uniqKey="Hwang J" first="Jae" last="Hwang">Jae Hwang</name></author><author><name sortKey="Kalidas, Kamini" sort="Kalidas, Kamini" uniqKey="Kalidas K" first="Kamini" last="Kalidas">Kamini Kalidas</name></author><author><name sortKey="Mortimer, Peter S" sort="Mortimer, Peter S" uniqKey="Mortimer P" first="Peter S" last="Mortimer">Peter S. Mortimer</name></author><author><name sortKey="Trembath, Richard" sort="Trembath, Richard" uniqKey="Trembath R" first="Richard" last="Trembath">Richard Trembath</name></author><author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name></author></analytic><series><title level="j">Journal of medical genetics</title><idno type="eISSN">1468-6244</idno><imprint><date when="2011" type="published">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Connexins (genetics)</term><term>Female</term><term>Genetic Linkage</term><term>Humans</term><term>Lymphatic Diseases (genetics)</term><term>Male</term><term>Mutation</term><term>Pedigree</term><term>Phenotype</term><term>Sequence Analysis, DNA</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Analyse de séquence d'ADN</term><term>Connexines (génétique)</term><term>Femelle</term><term>Humains</term><term>Liaison génétique</term><term>Maladies lymphatiques (génétique)</term><term>Mutation</term><term>Mâle</term><term>Pedigree</term><term>Phénotype</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>Lymphatic Diseases</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Connexines</term><term>Maladies lymphatiques</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Female</term><term>Genetic Linkage</term><term>Humans</term><term>Male</term><term>Mutation</term><term>Pedigree</term><term>Phenotype</term><term>Sequence Analysis, DNA</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Analyse de séquence d'ADN</term><term>Femelle</term><term>Humains</term><term>Liaison génétique</term><term>Mutation</term><term>Mâle</term><term>Pedigree</term><term>Phénotype</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Primary lymphoedema describes a chronic, frequently progressive, failure of lymphatic drainage. This disorder is frequently genetic in origin, and a multigenerational family in which eight individuals developed postnatal lymphoedema of all four limbs was ascertained from the joint Lymphoedema/Genetic clinic at St George's Hospital.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">21266381</PMID><DateCreated><Year>2011</Year><Month>03</Month><Day>28</Day></DateCreated><DateCompleted><Year>2011</Year><Month>07</Month><Day>29</Day></DateCompleted><DateRevised><Year>2017</Year><Month>09</Month><Day>02</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1468-6244</ISSN><JournalIssue CitedMedium="Internet"><Volume>48</Volume><Issue>4</Issue><PubDate><Year>2011</Year><Month>Apr</Month></PubDate></JournalIssue><Title>Journal of medical genetics</Title><ISOAbbreviation>J. Med. Genet.</ISOAbbreviation></Journal><ArticleTitle>Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.</ArticleTitle><Pagination><MedlinePgn>251-5</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1136/jmg.2010.085563</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Primary lymphoedema describes a chronic, frequently progressive, failure of lymphatic drainage. This disorder is frequently genetic in origin, and a multigenerational family in which eight individuals developed postnatal lymphoedema of all four limbs was ascertained from the joint Lymphoedema/Genetic clinic at St George's Hospital.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">Linkage analysis was used to determine a locus, and exome sequencing was employed to look for causative variants.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Linkage analysis revealed cosegregation of a 16.1 Mb haplotype on chromosome 1q42 that contained 173 known or predicted genes. Whole exome sequencing in a single affected individual was undertaken, and the search for the causative variant was focused to within the linkage interval. This approach revealed two novel non-synonymous single nucleotide substitutions within the chromosome 1 locus, in NVL and GJC2. NVL and GJC2 were sequenced in an additional cohort of individuals with a similar phenotype and non-synonymous variants were found in GJC2 in four additional families.</AbstractText><AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">This report demonstrates the power of exome sequencing efficiently applied to a traditional positional cloning pipeline in disease gene discovery, and suggests that the phenotype produced by GJC2 mutations is predominantly one of 4 limb lymphoedema.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Ostergaard</LastName><ForeName>Pia</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Medical Genetics, St George's, University of London, and Guy's Hospital, London SW17 ORE, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Simpson</LastName><ForeName>Michael A</ForeName><Initials>MA</Initials></Author><Author ValidYN="Y"><LastName>Brice</LastName><ForeName>Glen</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Mansour</LastName><ForeName>Sahar</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Connell</LastName><ForeName>Fiona C</ForeName><Initials>FC</Initials></Author><Author ValidYN="Y"><LastName>Onoufriadis</LastName><ForeName>Alexandros</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Child</LastName><ForeName>Anne H</ForeName><Initials>AH</Initials></Author><Author ValidYN="Y"><LastName>Hwang</LastName><ForeName>Jae</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Kalidas</LastName><ForeName>Kamini</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Mortimer</LastName><ForeName>Peter S</ForeName><Initials>PS</Initials></Author><Author ValidYN="Y"><LastName>Trembath</LastName><ForeName>Richard</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Jeffery</LastName><ForeName>Steve</ForeName><Initials>S</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>BHF_PG/10/58/28477</GrantID><Agency>British Heart Foundation</Agency><Country>United Kingdom</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2011</Year><Month>01</Month><Day>25</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>J Med Genet</MedlineTA><NlmUniqueID>2985087R</NlmUniqueID><ISSNLinking>0022-2593</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><MeshHeadingList><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="D008040" MajorTopicYN="Y">Genetic Linkage</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008206" MajorTopicYN="N">Lymphatic Diseases</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="Y">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010641" MajorTopicYN="N">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017422" MajorTopicYN="N">Sequence Analysis, DNA</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2011</Year><Month>1</Month><Day>27</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2011</Year><Month>1</Month><Day>27</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2011</Year><Month>7</Month><Day>30</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">21266381</ArticleId><ArticleId IdType="pii">jmg.2010.085563</ArticleId><ArticleId IdType="doi">10.1136/jmg.2010.085563</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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