Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Holly K HarrisTojo NakayamaJenny LaiBoxun ZhaoNikoleta ArgyrouCynthia S GubbelsAubrie SoucyCasie A GenettiVictoria SuslovitchLance H RodanGeorge E TillerGaetan LescaKaren W GrippReza AsadollahiAda HamoshCarolyn D ApplegatePeter D TurnpennyMarleen E H SimonCatharina M L Volker-TouwKoen L I van GassenEllen van BinsbergenRolph PfundtThatjana GardeitchikBert B A de VriesLaDonna L ImmkenCatherine BuchananMarcia WillingTomi L TolerEmily FassiLaura BakerFleur VansenneXiadong WangJulian L AmbrusMadeleine FannemelJennifer E PoseyEmanuele AgoliniAntonio NovelliAnita RauchParanchai BoonsawatChristina R FagerbergMartin J LarsenMaria KibaekAudrey LabalmeAlice PoissonKatelyn K PayneLaurence E WalshKimberly A AldingerJorune BalciunieneCara SkrabanChristopher GrayJill MurrellCaleb P BuppGiulia PascoliniPaola GrammaticoMartin BrolySébastien KüryMathilde NizonIqra Ghulam RasoolMuhammad Yasir ZahoorCornelia KrausAndré ReisMuhammad IqbalKevin UguenSeverine Audebert-BellangerClaude FerecSylvia RedonJanice BakerYunhong WuGuiseppe ZampinoSteffan SyrbeInes BrosseRami Abou JamraWilliam B DobynsLilian L CohenAnne BlomhoffCyril MignotBoris KerenThomas CourtinPankaj B AgrawalAlan H BeggsTimothy W YuPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
These results establish a likely role of deleterious variation in RFX3, RFX4, and RFX7 in cases of monogenic intellectual disability, ADHD and ASD, and position these genes as potentially critical transcriptional regulators of neurobiological pathways associated with neurodevelopmental disease pathogenesis.