CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
Enrico D H KonradNiels NardiniAlmuth CaliebeInga NagelDana YoungGabriella HorvathStephanie L SantoroChristine ShussAlban ZieglerDominique BonneauMarlies KempersRolph PfundtEric LegiusArjan BoumanKyra E StuurmanKatrin ÕunapSander PajusaluMonica Hsiung WojcikGeorgia VasileiouGwenaël Le GuyaderHege M SchnelleSiren BerlandEvelien Zonneveld-HuijssoonSimone KerstenAditi GuptaPatrick R BlackburnMarissa S EllingsonMatthew J FerberRadhika DhamijaEric W KleeMeriel McEntagartKlaske D LichtenbeltAmy KenneySamantha A VerganoRami Abou JamraKonrad PlatzerMary Ella PierpontDivya KhattarRobert J HopkinRichard J MartinMarjolijn C J JongmansVivian Y ChangJulian A Martinez-AgostoOuti KuisminMitja I KurkiOlli PietiläinenAarno PalotieTimothy J MaarupDiana S JohnsonKatja Venborg PedersenLone W LaulundSally A LynchMoira BlythKatrina PrescottNatalie CanhamRita IbitoyeEva H BrilstraMarwan ShinawiEmily Fassinull nullHeinrich StichtAnne GregorHilde Van EschChristiane ZweierPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
We significantly broaden the mutational and clinical spectrum ofCTCF-associated NDDs. Our data shed light onto the functional role of CTCF by identifying deregulated genes and show that Ctcf alterations result in nervous system defects in Drosophila.