Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith-Wiedemann syndrome upon maternal transmission.
Identifieur interne : 001C01 ( Ncbi/Merge ); précédent : 001C00; suivant : 001C02Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith-Wiedemann syndrome upon maternal transmission.
Auteurs : Julie Demars [France] ; Mansur Ennuri Shmela [Australie] ; Abdul Waheed Khan [Australie] ; Kai Syin Lee [Australie] ; Salah Azzi [France] ; Patrice Dehais [France] ; Irène Netchine [France] ; Sylvie Rossignol [France] ; Yves Le Bouc [France] ; Assam El-Osta [Australie] ; Christine Gicquel [Australie]Source :
- Journal of medical genetics [ 1468-6244 ] ; 2014.
Descripteurs français
- KwdFr :
- Canal potassique KCNQ1 (génétique), Canal potassique KCNQ1 (métabolisme), Femelle, Haplotypes (génétique), Humains, Introns (génétique), Mutation (génétique), Mâle, Méthylation de l'ADN (génétique), Protéines de répression (métabolisme), Sites de fixation (génétique), Syndrome de Beckwith-Wiedemann (génétique).
- MESH :
- génétique : Canal potassique KCNQ1, Haplotypes, Introns, Mutation, Méthylation de l'ADN, Sites de fixation, Syndrome de Beckwith-Wiedemann.
- métabolisme : Canal potassique KCNQ1, Protéines de répression.
- Femelle, Humains, Mâle.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : KCNQ1 Potassium Channel.
- genetics : Beckwith-Wiedemann Syndrome, Binding Sites, DNA Methylation, Haplotypes, Introns, Mutation.
- chemical , metabolism : KCNQ1 Potassium Channel, Repressor Proteins.
- Female, Humans, Male.
Abstract
Disruption of 11p15 imprinting results in two fetal growth disorders with opposite phenotypes: the Beckwith-Wiedemann (BWS; MIM 130650) and the Silver-Russell (SRS; MIM 180860) syndromes. DNA methylation defects account for 60% of BWS and SRS cases and, in most cases, occur without any identified mutation in a cis-acting regulatory sequence or a trans-acting factor.
DOI: 10.1136/jmedgenet-2014-102368
PubMed: 24996904
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France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia INRA, GenPhySE (Génétique, Physiologie et Systèmes d'Elevage), Castanet-Tolosan</wicri:regionArea><wicri:noRegion>Castanet-Tolosan</wicri:noRegion><wicri:noRegion>Castanet-Tolosan</wicri:noRegion></affiliation></author><author><name sortKey="Shmela, Mansur Ennuri" sort="Shmela, Mansur Ennuri" uniqKey="Shmela M" first="Mansur Ennuri" last="Shmela">Mansur Ennuri Shmela</name><affiliation wicri:level="1"><nlm:affiliation>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Khan, Abdul Waheed" sort="Khan, Abdul Waheed" uniqKey="Khan A" first="Abdul Waheed" last="Khan">Abdul Waheed Khan</name><affiliation wicri:level="4"><nlm:affiliation>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia University of Melbourne, Parkville, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia University of Melbourne, Parkville</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Lee, Kai Syin" sort="Lee, Kai Syin" uniqKey="Lee K" first="Kai Syin" last="Lee">Kai Syin Lee</name><affiliation wicri:level="1"><nlm:affiliation>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Azzi, Salah" sort="Azzi, Salah" uniqKey="Azzi S" first="Salah" last="Azzi">Salah Azzi</name><affiliation wicri:level="3"><nlm:affiliation>APHP, Armand Trousseau Hôpital, Pediatric Endocrinology, INSERM, UMR_S 938, CDR Saint-Antoine, F-75012, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, F-75012, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>APHP, Armand Trousseau Hôpital, Pediatric Endocrinology, INSERM, UMR_S 938, CDR Saint-Antoine, F-75012, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, F-75012, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Dehais, Patrice" sort="Dehais, Patrice" uniqKey="Dehais P" first="Patrice" last="Dehais">Patrice Dehais</name><affiliation wicri:level="1"><nlm:affiliation>INRA, GenPhySE (Génétique, Physiologie et Systèmes d'Elevage), Castanet-Tolosan, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INRA, GenPhySE (Génétique, Physiologie et Systèmes d'Elevage), Castanet-Tolosan</wicri:regionArea><wicri:noRegion>Castanet-Tolosan</wicri:noRegion><wicri:noRegion>Castanet-Tolosan</wicri:noRegion></affiliation></author><author><name sortKey="Netchine, Irene" sort="Netchine, Irene" uniqKey="Netchine I" first="Irène" last="Netchine">Irène Netchine</name><affiliation wicri:level="3"><nlm:affiliation>APHP, Armand Trousseau Hôpital, Pediatric Endocrinology, INSERM, UMR_S 938, CDR Saint-Antoine, F-75012, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, F-75012, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>APHP, Armand Trousseau Hôpital, Pediatric Endocrinology, INSERM, UMR_S 938, CDR Saint-Antoine, F-75012, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, F-75012, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Rossignol, Sylvie" sort="Rossignol, Sylvie" uniqKey="Rossignol S" first="Sylvie" last="Rossignol">Sylvie Rossignol</name><affiliation wicri:level="3"><nlm:affiliation>APHP, Armand Trousseau Hôpital, Pediatric Endocrinology, INSERM, UMR_S 938, CDR Saint-Antoine, F-75012, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, F-75012, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>APHP, Armand Trousseau Hôpital, Pediatric Endocrinology, INSERM, UMR_S 938, CDR Saint-Antoine, F-75012, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, F-75012, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Le Bouc, Yves" sort="Le Bouc, Yves" uniqKey="Le Bouc Y" first="Yves" last="Le Bouc">Yves Le Bouc</name><affiliation wicri:level="3"><nlm:affiliation>APHP, Armand Trousseau Hôpital, Pediatric Endocrinology, INSERM, UMR_S 938, CDR Saint-Antoine, F-75012, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, F-75012, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>APHP, Armand Trousseau Hôpital, Pediatric Endocrinology, INSERM, UMR_S 938, CDR Saint-Antoine, F-75012, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, F-75012, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="El Osta, Assam" sort="El Osta, Assam" uniqKey="El Osta A" first="Assam" last="El-Osta">Assam El-Osta</name><affiliation wicri:level="1"><nlm:affiliation>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Victoria, Australia University of Melbourne, Parkville, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Victoria, Australia University of Melbourne, Parkville</wicri:regionArea><wicri:noRegion>Parkville</wicri:noRegion></affiliation></author><author><name sortKey="Gicquel, Christine" sort="Gicquel, Christine" uniqKey="Gicquel C" first="Christine" last="Gicquel">Christine Gicquel</name><affiliation wicri:level="1"><nlm:affiliation>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author></analytic><series><title level="j">Journal of medical genetics</title><idno type="eISSN">1468-6244</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Beckwith-Wiedemann Syndrome (genetics)</term><term>Binding Sites (genetics)</term><term>DNA Methylation (genetics)</term><term>Female</term><term>Haplotypes (genetics)</term><term>Humans</term><term>Introns (genetics)</term><term>KCNQ1 Potassium Channel (genetics)</term><term>KCNQ1 Potassium Channel (metabolism)</term><term>Male</term><term>Mutation (genetics)</term><term>Repressor Proteins (metabolism)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Canal potassique KCNQ1 (génétique)</term><term>Canal potassique KCNQ1 (métabolisme)</term><term>Femelle</term><term>Haplotypes (génétique)</term><term>Humains</term><term>Introns (génétique)</term><term>Mutation (génétique)</term><term>Mâle</term><term>Méthylation de l'ADN (génétique)</term><term>Protéines de répression (métabolisme)</term><term>Sites de fixation (génétique)</term><term>Syndrome de Beckwith-Wiedemann (génétique)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>KCNQ1 Potassium Channel</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Beckwith-Wiedemann Syndrome</term><term>Binding Sites</term><term>DNA Methylation</term><term>Haplotypes</term><term>Introns</term><term>Mutation</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Canal potassique KCNQ1</term><term>Haplotypes</term><term>Introns</term><term>Mutation</term><term>Méthylation de l'ADN</term><term>Sites de fixation</term><term>Syndrome de Beckwith-Wiedemann</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>KCNQ1 Potassium Channel</term><term>Repressor Proteins</term></keywords><keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Canal potassique KCNQ1</term><term>Protéines de répression</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Female</term><term>Humans</term><term>Male</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Femelle</term><term>Humains</term><term>Mâle</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Disruption of 11p15 imprinting results in two fetal growth disorders with opposite phenotypes: the Beckwith-Wiedemann (BWS; MIM 130650) and the Silver-Russell (SRS; MIM 180860) syndromes. DNA methylation defects account for 60% of BWS and SRS cases and, in most cases, occur without any identified mutation in a cis-acting regulatory sequence or a trans-acting factor.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">24996904</PMID><DateCreated><Year>2014</Year><Month>07</Month><Day>17</Day></DateCreated><DateCompleted><Year>2015</Year><Month>03</Month><Day>30</Day></DateCompleted><DateRevised><Year>2017</Year><Month>11</Month><Day>16</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1468-6244</ISSN><JournalIssue CitedMedium="Internet"><Volume>51</Volume><Issue>8</Issue><PubDate><Year>2014</Year><Month>Aug</Month></PubDate></JournalIssue><Title>Journal of medical genetics</Title><ISOAbbreviation>J. Med. Genet.</ISOAbbreviation></Journal><ArticleTitle>Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith-Wiedemann syndrome upon maternal transmission.</ArticleTitle><Pagination><MedlinePgn>502-11</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1136/jmedgenet-2014-102368</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Disruption of 11p15 imprinting results in two fetal growth disorders with opposite phenotypes: the Beckwith-Wiedemann (BWS; MIM 130650) and the Silver-Russell (SRS; MIM 180860) syndromes. DNA methylation defects account for 60% of BWS and SRS cases and, in most cases, occur without any identified mutation in a cis-acting regulatory sequence or a trans-acting factor.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">We investigated whether 11p15 cis-acting sequence variants account for primary DNA methylation defects in patients with SRS and BWS with loss of DNA methylation at ICR1 and ICR2, respectively.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">We identified a 4.5 kb haplotype that, upon maternal transmission, is associated with a risk of ICR2 loss of DNA methylation in patients with BWS. This novel region is located within the second intron of the KCNQ1 gene, 170 kb upstream of the ICR2 imprinting centre and encompasses two CTCF binding sites. We showed that, within the 4.5 kb region, two SNPs (rs11823023 and rs179436) affect CTCF occupancy at DNA motifs flanking the CTCF 20 bp core motif.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">This study shows that genetic variants confer a risk of DNA methylation defect with a parent-of-origin effect and highlights the crucial role of CTCF for the regulation of genomic imprinting of the CDKN1C/KCNQ1 domain.</AbstractText><CopyrightInformation>Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Demars</LastName><ForeName>Julie</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia INRA, GenPhySE (Génétique, Physiologie et Systèmes d'Elevage), Castanet-Tolosan, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Shmela</LastName><ForeName>Mansur Ennuri</ForeName><Initials>ME</Initials><AffiliationInfo><Affiliation>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Victoria, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Khan</LastName><ForeName>Abdul Waheed</ForeName><Initials>AW</Initials><AffiliationInfo><Affiliation>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia University of Melbourne, Parkville, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lee</LastName><ForeName>Kai Syin</ForeName><Initials>KS</Initials><AffiliationInfo><Affiliation>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Azzi</LastName><ForeName>Salah</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>APHP, Armand Trousseau Hôpital, Pediatric Endocrinology, INSERM, UMR_S 938, CDR Saint-Antoine, F-75012, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, F-75012, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dehais</LastName><ForeName>Patrice</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>INRA, GenPhySE (Génétique, Physiologie et Systèmes d'Elevage), Castanet-Tolosan, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Netchine</LastName><ForeName>Irène</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>APHP, Armand Trousseau Hôpital, Pediatric Endocrinology, INSERM, UMR_S 938, CDR Saint-Antoine, F-75012, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, F-75012, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rossignol</LastName><ForeName>Sylvie</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>APHP, Armand Trousseau Hôpital, Pediatric Endocrinology, INSERM, UMR_S 938, CDR Saint-Antoine, F-75012, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, F-75012, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Le Bouc</LastName><ForeName>Yves</ForeName><Initials>Y</Initials><AffiliationInfo><Affiliation>APHP, Armand Trousseau Hôpital, Pediatric Endocrinology, INSERM, UMR_S 938, CDR Saint-Antoine, F-75012, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, F-75012, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>El-Osta</LastName><ForeName>Assam</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Victoria, Australia University of Melbourne, Parkville, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gicquel</LastName><ForeName>Christine</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Victoria, Australia.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2014</Year><Month>07</Month><Day>04</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="C109778">CCCTC-binding factor</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D051657">KCNQ1 Potassium Channel</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C496909">KCNQ1 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D012097">Repressor Proteins</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D001506" MajorTopicYN="N">Beckwith-Wiedemann Syndrome</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D001665" MajorTopicYN="N">Binding Sites</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D019175" MajorTopicYN="N">DNA Methylation</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006239" MajorTopicYN="N">Haplotypes</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007438" MajorTopicYN="N">Introns</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D051657" MajorTopicYN="N">KCNQ1 Potassium Channel</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D012097" MajorTopicYN="N">Repressor Proteins</DescriptorName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName></MeshHeading></MeshHeadingList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">Imprinting</Keyword><Keyword MajorTopicYN="N">Molecular genetics</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2014</Year><Month>7</Month><Day>6</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2014</Year><Month>7</Month><Day>6</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2015</Year><Month>3</Month><Day>31</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">24996904</ArticleId><ArticleId IdType="pii">jmedgenet-2014-102368</ArticleId><ArticleId IdType="doi">10.1136/jmedgenet-2014-102368</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Australie</li><li>France</li></country><region><li>Victoria (État)</li><li>Île-de-France</li></region><settlement><li>Melbourne</li><li>Paris</li></settlement><orgName><li>Université de Melbourne</li></orgName></list><tree><country name="France"><noRegion><name sortKey="Demars, Julie" sort="Demars, Julie" uniqKey="Demars J" first="Julie" last="Demars">Julie Demars</name></noRegion><name sortKey="Azzi, Salah" sort="Azzi, Salah" uniqKey="Azzi S" first="Salah" last="Azzi">Salah Azzi</name><name sortKey="Dehais, Patrice" sort="Dehais, Patrice" uniqKey="Dehais P" first="Patrice" last="Dehais">Patrice Dehais</name><name sortKey="Le Bouc, Yves" sort="Le Bouc, Yves" uniqKey="Le Bouc Y" first="Yves" last="Le Bouc">Yves Le Bouc</name><name sortKey="Netchine, Irene" sort="Netchine, Irene" uniqKey="Netchine I" first="Irène" last="Netchine">Irène Netchine</name><name sortKey="Rossignol, Sylvie" sort="Rossignol, Sylvie" uniqKey="Rossignol S" first="Sylvie" last="Rossignol">Sylvie Rossignol</name></country><country name="Australie"><noRegion><name sortKey="Shmela, Mansur Ennuri" sort="Shmela, Mansur Ennuri" uniqKey="Shmela M" first="Mansur Ennuri" last="Shmela">Mansur Ennuri Shmela</name></noRegion><name sortKey="El Osta, Assam" sort="El Osta, Assam" uniqKey="El Osta A" first="Assam" last="El-Osta">Assam El-Osta</name><name sortKey="Gicquel, Christine" sort="Gicquel, Christine" uniqKey="Gicquel C" first="Christine" last="Gicquel">Christine Gicquel</name><name sortKey="Khan, Abdul Waheed" sort="Khan, Abdul Waheed" uniqKey="Khan A" first="Abdul Waheed" last="Khan">Abdul Waheed Khan</name><name sortKey="Lee, Kai Syin" sort="Lee, Kai Syin" uniqKey="Lee K" first="Kai Syin" last="Lee">Kai Syin Lee</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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