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/Curation ); 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
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :003578
- to stream PubMed, to step Curation: Pour aller vers cette notice dans l'étape Curation :003465
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pubmed:24996904Le document en format XML
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<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>
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<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>
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