O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
Clara VelmansAnne H O'Donnell-LuriaEmanuela ArgilliFrédéric Tran Mau ThemAntonio VitobelloMarcus Cy ChanJasmine Lee-Fong FungMegan RechAngela AbichtMarion Aubert-MuccaJason CarmichaelNicolas ChassaingRobin ClarkChristine CoubesAnne Sophie Denommé-PichonJohn Karl de DiosEleina EnglandBenoit FunalotMarion GerardMaries JosephColleen KennedyCamille KumpsMarjolaine WillemsIngrid M B H van de LaarCoranne Aarts-TesselaarMarjon van SlegtenhorstDaphne LehalleKathleen LeppigLennart LessmeierLynn S PaisHeather PatersonSubhadra RamanathanLance H RodanAndrea Superti-FurgaBrian Hon-Yin ChungElliott SherrChristian NetzerChristian Patrick SchaafFlorian ErgerPublished in: Journal of medical genetics (2021)
Our study, bringing the total of known patients with ODLURO to more than 60 within 2 years of the first publication, suggests an unexpectedly high relative frequency of this syndrome worldwide. It seems likely that ODLURO, although just recently described, is among the more common single-gene aetiologies of neurodevelopmental delay and ASD. We present the second systematic case series of patients with ODLURO, further refining the mutational and phenotypic spectrum of this not-so-rare syndrome.