Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
Martin ChevarinYannis DuffourdRebecca A BarnardSébastien MouttonFrancois LecoquierreFatma DaoudPaul KuentzCaroline CabretJulien ThevenonElodie GautierPatrick CallierJudith St-OngeThibaud JouanDidier LacombeMarie Ange DelrueCyril GoizetFanny Morice-PicardJulien Van-GilsArnold MunnichStanislas LyonnetValérie Cormier-DaireGeneviève BaujatMuriel HolderFlorence PetitBruno LeheupSylvie OdentPierre-Simon JoukGipsy LopezDavid GenevièvePatrick CollignonDominique Martin-CoignardAurélia JacquetteLaurence PerrinAudrey PutouxElisabeth SarrazinKhadija AmarofIsabelle MissotteChristine CoubesSujatha JagadeeshElisabetta LapiFlorence DemurgerAlice GoldenbergMartine Doco-FenzyCyril MignotDelphine HéronNolwenn Jean-MarçaisAlice MasurelSalima El ChehadehNathalie MarleFrédéric HuetChristine BinquetGwenaëlle Collod-BeroudPauline ArnaudNadine HannaCatherine BoileauGuillaume JondeauRobert OlasoDoris LechnerCharlotte PoeMirna AssoumVirginie CarmignacLaurence DuplombFrédéric Tran Mau-ThemChristophe PhilippeAntonio VitobelloAnge-Line BruelAnne BolandJean-François DeleuzeChristel Thauvin-RobinetJean-Baptiste RivièreBrian J O'RoakLaurence Olivier-FaivrePublished in: Journal of medical genetics (2020)
We demonstrated that DNVs were enriched in chromatin remodelling (p=2×10-4) and genes regulated by the fragile X mental retardation protein (p=3×10-8), highlighting overlapping genetic mechanisms between MHID and related neurodevelopmental disorders.