Login / Signup

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 Erger
Published 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.
Keyphrases
  • case report
  • attention deficit hyperactivity disorder
  • genome wide
  • gene expression
  • transcription factor
  • working memory
  • congenital heart disease