Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci
Identifieur interne : 000279 ( Istex/Curation ); précédent : 000278; suivant : 000280Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci
Auteurs : Salah Azzi ; Sylvie Rossignol ; Virginie Steunou ; Theo Sas ; Nathalie Thibaud ; Fabienne Danton ; Maryline Le Jule ; Claudine Heinrichs [Belgique] ; Sylvie Cabrol ; Christine Gicquel [Australie] ; Yves Le Bouc ; Irene Netchine [France]Source :
- Human Molecular Genetics [ 0964-6906 ] ; 2009-12-15.
Abstract
Genomic imprinting plays an important role in mammalian development. Loss of imprinting (LOI) through loss (LOM) or gain (GOM) of methylation is involved in many human disorders and cancers. The imprinted 11p15 region is crucial for the control of foetal growth and LOI at this locus is implicated in two clinically opposite disorders: Beckwith Wiedemann syndrome (BWS) with foetal overgrowth associated with an enhanced tumour risk and Russell–Silver syndrome (RSS) with intrauterine and postnatal growth restriction. So far, only a few studies have assessed multilocus LOM in human imprinting diseases. To investigate multilocus LOI syndrome, we studied the methylation status of five maternally and two paternally methylated loci in a large series (n = 167) of patients with 11p15-related foetal growth disorders. We found that 9.5% of RSS and 24% of BWS patients showed multilocus LOM at regions other than ICR1 and ICR2 11p15, respectively. Moreover, over two third of multilocus LOM RSS patients also had LOM at a second paternally methylated locus, DLK1/GTL2 IG-DMR. No additional clinical features due to LOM of other loci were found suggesting an (epi)dominant effect of the 11p15 LOM on the clinical phenotype for this series of patients. Surprisingly, four patients displayed LOM at both ICR1 and ICR2 11p15. Three of them had a RSS and one a BWS phenotype. Our results show for the first time that multilocus LOM can also concern RSS patients. Moreover, LOM can involve both paternally and maternally methylated loci in the same patient.
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DOI: 10.1093/hmg/ddp435
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Salah Azzi<affiliation><mods:affiliation>Laboratoire d'Explorations Fonctionnelles Endocriniennes, APHP, Hôpital Armand Trousseau; INSERM UMR-S938 Team 4; Université Pierre et Marie Curie-Paris 6, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Laboratoire d'Explorations Fonctionnelles Endocriniennes, APHP, Hôpital Armand Trousseau; INSERM UMR-S938 Team 4; Université Pierre et Marie Curie-Paris 6, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Laboratoire d'Explorations Fonctionnelles Endocriniennes, APHP, Hôpital Armand Trousseau; INSERM UMR-S938 Team 4; Université Pierre et Marie Curie-Paris 6, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Laboratoire d'Explorations Fonctionnelles Endocriniennes, APHP, Hôpital Armand Trousseau; INSERM UMR-S938 Team 4; Université Pierre et Marie Curie-Paris 6, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Laboratoire d'Explorations Fonctionnelles Endocriniennes, APHP, Hôpital Armand Trousseau; INSERM UMR-S938 Team 4; Université Pierre et Marie Curie-Paris 6, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Laboratoire d'Explorations Fonctionnelles Endocriniennes, APHP, Hôpital Armand Trousseau; INSERM UMR-S938 Team 4; Université Pierre et Marie Curie-Paris 6, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Laboratoire d'Explorations Fonctionnelles Endocriniennes, APHP, Hôpital Armand Trousseau; INSERM UMR-S938 Team 4; Université Pierre et Marie Curie-Paris 6, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Laboratoire d'Explorations Fonctionnelles Endocriniennes, APHP, Hôpital Armand Trousseau; INSERM UMR-S938 Team 4; Université Pierre et Marie Curie-Paris 6, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Laboratoire d'Explorations Fonctionnelles Endocriniennes, APHP, Hôpital Armand Trousseau; INSERM UMR-S938 Team 4; Université Pierre et Marie Curie-Paris 6, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation><affiliation wicri:level="1"><mods:affiliation>E-mail: irene.netchine@trs.aphp.fr</mods:affiliation><country wicri:rule="url">France</country></affiliation>Le document en format XML
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INSERM UMR-S938 Team 4; Université Pierre et Marie Curie-Paris 6, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation wicri:level="1"><mods:affiliation>E-mail: irene.netchine@trs.aphp.fr</mods:affiliation><country wicri:rule="url">France</country></affiliation><affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation><affiliation wicri:level="1"><mods:affiliation>E-mail: irene.netchine@trs.aphp.fr</mods:affiliation><country wicri:rule="url">France</country></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:0E727BFFF7156103C17788634AD4759440D58021</idno><date when="2009" year="2009">2009</date><idno type="doi">10.1093/hmg/ddp435</idno><idno type="url">https://api.istex.fr/document/0E727BFFF7156103C17788634AD4759440D58021/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">000279</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">000279</idno><idno type="wicri:Area/Istex/Curation">000279</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a">Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci</title><author><name sortKey="Azzi, Salah" sort="Azzi, Salah" uniqKey="Azzi S" first="Salah" last="Azzi">Salah Azzi</name><affiliation><mods:affiliation>Laboratoire d'Explorations Fonctionnelles Endocriniennes, APHP, Hôpital Armand Trousseau; INSERM UMR-S938 Team 4; Université Pierre et Marie Curie-Paris 6, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Rossignol, Sylvie" sort="Rossignol, Sylvie" uniqKey="Rossignol S" first="Sylvie" last="Rossignol">Sylvie Rossignol</name><affiliation><mods:affiliation>Laboratoire d'Explorations Fonctionnelles Endocriniennes, APHP, Hôpital Armand Trousseau; INSERM UMR-S938 Team 4; Université Pierre et Marie Curie-Paris 6, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Steunou, Virginie" sort="Steunou, Virginie" uniqKey="Steunou V" first="Virginie" last="Steunou">Virginie Steunou</name><affiliation><mods:affiliation>Laboratoire d'Explorations Fonctionnelles Endocriniennes, APHP, Hôpital Armand Trousseau; INSERM UMR-S938 Team 4; Université Pierre et Marie Curie-Paris 6, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Sas, Theo" sort="Sas, Theo" uniqKey="Sas T" first="Theo" last="Sas">Theo Sas</name><affiliation><mods:affiliation>Laboratoire d'Explorations Fonctionnelles Endocriniennes, APHP, Hôpital Armand Trousseau; INSERM UMR-S938 Team 4; Université Pierre et Marie Curie-Paris 6, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Thibaud, Nathalie" sort="Thibaud, Nathalie" uniqKey="Thibaud N" first="Nathalie" last="Thibaud">Nathalie Thibaud</name><affiliation><mods:affiliation>Laboratoire d'Explorations Fonctionnelles Endocriniennes, APHP, Hôpital Armand Trousseau; INSERM UMR-S938 Team 4; Université Pierre et Marie Curie-Paris 6, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Danton, Fabienne" sort="Danton, Fabienne" uniqKey="Danton F" first="Fabienne" last="Danton">Fabienne Danton</name><affiliation><mods:affiliation>Laboratoire d'Explorations Fonctionnelles Endocriniennes, APHP, Hôpital Armand Trousseau; INSERM UMR-S938 Team 4; Université Pierre et Marie Curie-Paris 6, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Le Jule, Maryline" sort="Le Jule, Maryline" uniqKey="Le Jule M" first="Maryline" last="Le Jule">Maryline Le Jule</name><affiliation><mods:affiliation>Laboratoire d'Explorations Fonctionnelles Endocriniennes, APHP, Hôpital Armand Trousseau; INSERM UMR-S938 Team 4; Université Pierre et Marie Curie-Paris 6, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Heinrichs, Claudine" sort="Heinrichs, Claudine" uniqKey="Heinrichs C" first="Claudine" last="Heinrichs">Claudine Heinrichs</name><affiliation wicri:level="1"><mods:affiliation>Reine Fabiola Hospital, Pediatric Endocrinology 1020, Brussels, Belgium and</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Reine Fabiola Hospital, Pediatric Endocrinology 1020, Brussels</wicri:regionArea></affiliation></author><author><name sortKey="Cabrol, Sylvie" sort="Cabrol, Sylvie" uniqKey="Cabrol S" first="Sylvie" last="Cabrol">Sylvie Cabrol</name><affiliation><mods:affiliation>Laboratoire d'Explorations Fonctionnelles Endocriniennes, APHP, Hôpital Armand Trousseau; INSERM UMR-S938 Team 4; Université Pierre et Marie Curie-Paris 6, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Gicquel, Christine" sort="Gicquel, Christine" uniqKey="Gicquel C" first="Christine" last="Gicquel">Christine Gicquel</name><affiliation wicri:level="1"><mods:affiliation>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne</wicri:regionArea></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><mods:affiliation>Laboratoire d'Explorations Fonctionnelles Endocriniennes, APHP, Hôpital Armand Trousseau; INSERM UMR-S938 Team 4; Université Pierre et Marie Curie-Paris 6, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Netchine, Irene" sort="Netchine, Irene" uniqKey="Netchine I" first="Irene" last="Netchine">Irene Netchine</name><affiliation><mods:affiliation>Laboratoire d'Explorations Fonctionnelles Endocriniennes, APHP, Hôpital Armand Trousseau; INSERM UMR-S938 Team 4; Université Pierre et Marie Curie-Paris 6, Paris, France,</mods:affiliation></affiliation><affiliation wicri:level="1"><mods:affiliation>E-mail: irene.netchine@trs.aphp.fr</mods:affiliation><country wicri:rule="url">France</country></affiliation><affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation><affiliation wicri:level="1"><mods:affiliation>E-mail: irene.netchine@trs.aphp.fr</mods:affiliation><country wicri:rule="url">France</country></affiliation></author></analytic><monogr></monogr><series><title level="j">Human Molecular Genetics</title><idno type="ISSN">0964-6906</idno><idno type="eISSN">1460-2083</idno><imprint><publisher>Oxford University Press</publisher><date type="published" when="2009-12-15">2009-12-15</date><biblScope unit="volume">18</biblScope><biblScope unit="issue">24</biblScope><biblScope unit="page" from="4724">4724</biblScope><biblScope unit="page" to="4733">4733</biblScope></imprint><idno type="ISSN">0964-6906</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0964-6906</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract">Genomic imprinting plays an important role in mammalian development. Loss of imprinting (LOI) through loss (LOM) or gain (GOM) of methylation is involved in many human disorders and cancers. The imprinted 11p15 region is crucial for the control of foetal growth and LOI at this locus is implicated in two clinically opposite disorders: Beckwith Wiedemann syndrome (BWS) with foetal overgrowth associated with an enhanced tumour risk and Russell–Silver syndrome (RSS) with intrauterine and postnatal growth restriction. So far, only a few studies have assessed multilocus LOM in human imprinting diseases. To investigate multilocus LOI syndrome, we studied the methylation status of five maternally and two paternally methylated loci in a large series (n = 167) of patients with 11p15-related foetal growth disorders. We found that 9.5% of RSS and 24% of BWS patients showed multilocus LOM at regions other than ICR1 and ICR2 11p15, respectively. Moreover, over two third of multilocus LOM RSS patients also had LOM at a second paternally methylated locus, DLK1/GTL2 IG-DMR. No additional clinical features due to LOM of other loci were found suggesting an (epi)dominant effect of the 11p15 LOM on the clinical phenotype for this series of patients. Surprisingly, four patients displayed LOM at both ICR1 and ICR2 11p15. Three of them had a RSS and one a BWS phenotype. Our results show for the first time that multilocus LOM can also concern RSS patients. Moreover, LOM can involve both paternally and maternally methylated loci in the same patient.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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