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Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.

dc.rights.licenseopenen_US
dc.contributor.authorJOURET, Guillaume
dc.contributor.authorEGLOFF, Matthieu
dc.contributor.authorLANDAIS, Emilie
dc.contributor.authorTASSY, Olivier
dc.contributor.authorGIULIANO, Fabienne
dc.contributor.authorKARMOUS BENAILLY, Houda
dc.contributor.authorCOUTTON, Charles
dc.contributor.authorSATRE, Véronique
dc.contributor.authorDEVILLARD, Françoise
dc.contributor.authorDIETERICH, Klaus
dc.contributor.authorVIEVILLE, Gaelle
dc.contributor.authorKUENTZ, Paul
dc.contributor.authorLE CAIGNEC, Cedric
dc.contributor.authorBENETEAU, Claire
dc.contributor.authorISIDOR, Bertrand
dc.contributor.authorNIZON, Mathilde
dc.contributor.authorCALLIER, Patrick
dc.contributor.authorMARQUET, Valentine
dc.contributor.authorBIETH, Eric
dc.contributor.authorLEVY, Jonathan
dc.contributor.authorTABET, Anne-Claude
dc.contributor.authorLYONNET, Stanislas
dc.contributor.authorBAUJAT, Genevieve
dc.contributor.authorRIO, Marlène
dc.contributor.authorCARTAULT, François
dc.contributor.authorSCHEIDECKER, Sophie
dc.contributor.authorGOURONC, Aurelie
dc.contributor.authorSCHALK, Audrey
dc.contributor.authorJACQUIN, Clémence
dc.contributor.authorSPODENKIEWICZ, Marta
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorANGELINI, Chloe
hal.structure.identifierCHU Bordeaux
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorPENNAMEN, Perrine
hal.structure.identifierCHU Bordeaux
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorROORYCK, Caroline
dc.contributor.authorDOCO-FENZY, Martine
dc.contributor.authorPOIRSIER, Celine
dc.date.accessioned2023-11-09T14:29:05Z
dc.date.available2023-11-09T14:29:05Z
dc.date.issued2023-01-01
dc.identifier.issn1552-4833en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/184702
dc.description.abstractEnA small but growing body of scientific literature is emerging about clinical findings in patients with 19p13.3 microdeletion or duplication. Recently, a proximal 19p13.3 microduplication syndrome was described, associated with growth delay, microcephaly, psychomotor delay and dysmorphic features. The aim of our study was to better characterize the syndrome associated with duplications in the proximal 19p13.3 region (prox 19p13.3 dup), and to propose a comprehensive analysis of the underlying genomic mechanism. We report the largest cohort of patients with prox 19p13.3 dup through a collaborative study. We collected 24 new patients with terminal or interstitial 19p13.3 duplication characterized by array-based Comparative Genomic Hybridization (aCGH). We performed mapping, phenotype-genotype correlations analysis, critical region delineation and explored three-dimensional chromatin interactions by analyzing Topologically Associating Domains (TADs). We define a new 377 kb critical region (CR 1) in chr19: 3,116,922-3,494,377, GRCh37, different from the previously described critical region (CR 2). The new 377 kb CR 1 includes a TAD boundary and two enhancers whose common target is PIAS4. We hypothesize that duplications of CR 1 are responsible for tridimensional structural abnormalities by TAD disruption and misregulation of genes essentials for the control of head circumference during development, by breaking down the interactions between enhancers and the corresponding targeted gene.
dc.language.isoENen_US
dc.subject19p13.3
dc.subjectNFIC
dc.subjectProx 19p13.3 dup
dc.subjectProximal 19p13.3 duplication syndrome
dc.title.enClinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
dc.title.alternativeAm J Med Genet Aen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1002/ajmg.a.62983en_US
dc.subject.halSciences du Vivant [q-bio]/Génétiqueen_US
dc.identifier.pubmed36196855en_US
bordeaux.journalAmerican Journal of Medical Genetics Part Aen_US
bordeaux.page52-63en_US
bordeaux.volume191en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue1en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.import.sourcepubmed
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exportfalse
workflow.import.sourcepubmed
dc.rights.ccPas de Licence CCen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=American%20Journal%20of%20Medical%20Genetics%20Part%20A&rft.date=2023-01-01&rft.volume=191&rft.issue=1&rft.spage=52-63&rft.epage=52-63&rft.eissn=1552-4833&rft.issn=1552-4833&rft.au=JOURET,%20Guillaume&EGLOFF,%20Matthieu&LANDAIS,%20Emilie&TASSY,%20Olivier&GIULIANO,%20Fabienne&rft.genre=article


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