Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
Maria IqbalReza MaroofianBüşranur ÇavdarlıFlorence RiccardiMichael FieldSiddharth BankaDalal K BubshaitYun LiJozef HertecantShahid Mahmood BaigDavid DymentStephanie EfthymiouUzma AbdullahEhtisham Ul Haq MakhdoomZafar AliTobias Scherf de AlmeidaFlorence MolinariCécile Mignon-RavixBrigitte ChabrolJayne AntonyLesley AdesAlistair T PagnamentaAdam JacksonSofia Douzgounull nullChristian BeetzVasiliki KarageorgouBarbara VonaAboulfazl RadJamshaid Mahmood BaigTipu SultanJaveria Raza AlviShazia MaqboolFatima RahmanMehran Beiraghi ToosiFarah AshrafzadehShima ImannezhadEhsan Ghayoor KarimianiYasra SarwarSheraz KhanMuhammad JameelAngelika A NoegelBirgit BuddeJanine AltmüllerSusanne MotamenyWolfgang HöhneHenry HouldenPeter NürnbergBernd WollnikLaurent VillardFowzan Sami AlkurayaMatthew OsmondMuhammad Sajid HussainGökhan YigitPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
We show that biallelic variants in PCDHGC4 are causing a novel autosomal recessive neurodevelopmental disorder and link PCDHGC4 as a member of the clustered PCDH family to a Mendelian disorder in humans.