biostudies-literatureDel Giudice ETelethon74https://www.ebi.ac.uk/biostudies/studies/S-EPMC4113190biostudies-literatureUnknown9<h4>Background</h4>Oral-facial-digital type 1 syndrome (OFD1; OMIM 311200) belongs to the expanding group of disorders ascribed to ciliary dysfunction. With the aim of contributing to the understanding of the role of primary cilia in the central nervous system (CNS), we performed a thorough characterization of CNS involvement observed in this disorder.<h4>Methods</h4>A cohort of 117 molecularly diagnosed OFD type I patients was screened for the presence of neurological symptoms and/or cognitive/behavioral abnormalities on the basis of the available information supplied by the collaborating clinicians. Seventy-one cases showing CNS involvement were further investigated through neuroimaging studies and neuropsychological testing.<h4>Results</h4>Seventeen patients were molecularly diagnosed iOrphanet journal of rare diseasesCNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.PMC4113190TGM11CB3Imperati FD'Amico AJenny KBenke PHeran HHovers VWilliams DJouk PSLayet VSelicorni AFerrier RZelante LGraber VLees MMegarbane ABurn JDel Pozo JSDavid AGiuliano FHeron DSchafer IBianchini GPfau RMatthijs GGodde EAbdulla FIwarsson EHenderson ADel Giudice ELhotta KKlehr-Martinelli MTeebi ALyonnet SSell SCastellan CGal AFarndon PMcKenzie FWhite SJones ERaymond FLShashi VTurner CWhittaker JTurc-Carel CFoggia SBartoshesky LEBrunner HGTzschach AMacdonald FBird LPasquier LGraham GEDevriendt KGurrieri FToutain AOrth URump PAmy SGardner MDestree AHeim SLoughlin SLespinasse JCuore SKotzot DRankin JToprak OCastelluccio PTerhal PElcioglu NOral-Facial-Digital Type I (OFD1) Collaborative GroupMasser-Frye DSabato ARoggenbuck JStevanovic GRio MOkhowat RMucke JZoll BGillessen-Kaesbach GScarcella AParent PChibuk JMarlin SSwenerton AGilbert BThauvin-Robinet CChiong MATrump DObersztyn EKutkowska-Kazmierczak AReimschisel TCutiongco EMCurry CBigoni SNuova ASHomfray TBeemer FATan TMota CRFriedman JMBarcina MGGerola OMcGaughran JPlessis GCarmi RPober BBetz RCCastle BFerrero GBReich EDunlap JWJensen PMinnerop MShinzel AMacca MKeeling SLSchell-Apacik CBurglen LSmithson SBankier ABrunetti Nde Magalhaes DMcLeod DRTrousseau AVirdis RKrapels IThiese HRobertson JOdent SCollins FFranco BStamboul-Darmency VKlatt RDean JTreisman TfalseCNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.<h4>Background</h4>Oral-facial-digital type 1 syndrome (OFD1; OMIM 311200) belongs to the expanding group of disorders ascribed to ciliary dysfunction. With the aim of contributing to the understanding of the role of primary cilia in the central nervous system (CNS), we performed a thorough characterization of CNS involvement observed in this disorder.<h4>Methods</h4>A cohort of 117 molecularly diagnosed OFD type I patients was screened for the presence of neurological symptoms and/or cognitive/behavioral abnormalities on the basis of the available information supplied by the collaborating clinicians. Seventy-one cases showing CNS involvement were further investigated through neuroimaging studies and neuropsychological testing.<h4>Results</h4>Seventeen patients were molecularly diagnosed i2014-01-01T00:00:00Z2014 May2026-05-04T23:58:03.187Z2026-04-07T21:09:20.813ZS-EPMC41131902488462910.1186/1750-1172-9-74