2023
Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis
Ahram D, Lim T, Ke J, Jin G, Verbitsky M, Bodria M, Kil B, Chatterjee D, Piva S, Marasa M, Zhang J, Cocchi E, Caridi G, Gucev Z, Lozanovski V, Pisani I, Izzi C, Savoldi G, Gnutti B, Capone V, Morello W, Guarino S, Esposito P, Lambert S, Radhakrishnan J, Appel G, Uy N, Rao M, Canetta P, Bomback A, Nestor J, Hays T, Cohen D, Finale C, van Wijk J, La Scola C, Baraldi O, Tondolo F, Di Renzo D, Jamry-Dziurla A, Pezzutto A, Manca V, Mitrotti A, Santoro D, Conti G, Martino M, Giordano M, Gesualdo L, Zibar L, Masnata G, Bonomini M, Alberti D, La Manna G, Caliskan Y, Ranghino A, Marzuillo P, Kiryluk K, Krzemień G, Miklaszewska M, Lin F, Montini G, Scolari F, Fiaccadori E, Arapović A, Saraga M, McKiernan J, Alam S, Zaniew M, Szczepańska M, Szmigielska A, Sikora P, Drożdż D, Mizerska-Wasiak M, Mane S, Lifton R, Tasic V, Latos-Bielenska A, Gharavi A, Ghiggeri G, Materna-Kiryluk A, Westland R, Sanna-Cherchi S. Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis. Journal Of The American Society Of Nephrology 2023, 34: 1105-1119. PMID: 36995132, PMCID: PMC10278788, DOI: 10.1681/asn.0000000000000132.Peer-Reviewed Original ResearchMeSH KeywordsDNA Copy Number VariationsHumansHydronephrosisKidney PelvisUreteral ObstructionVesico-Ureteral RefluxConceptsCongenital obstructive uropathyPathogenic single nucleotide variantsOverall diagnostic yieldHeterogeneous clinical presentationSingle nucleotide variantsObstructive uropathyClinical presentationDiagnostic yieldGenomic disordersDevelopmental defectsUreteropelvic junction obstructionComprehensive genomic screensFirst diagnostic approachSignificant differencesGenetic susceptibility factorsNovel genetic susceptibility factorsCommon molecular basisDosage-sensitive genesVesicoureteral refluxCongenital megaureterUrinary tractJunction obstructionDiagnostic challengeCommon causeHuman developmental defects
2018
A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux
van der Ven AT, Kobbe B, Kohl S, Shril S, Pogoda HM, Imhof T, Ityel H, Vivante A, Chen J, Hwang DY, Connaughton DM, Mann N, Widmeier E, Taglienti M, Schmidt JM, Nakayama M, Senguttuvan P, Kumar S, Tasic V, Kehinde EO, Mane SM, Lifton RP, Soliman N, Lu W, Bauer SB, Hammerschmidt M, Wagener R, Hildebrandt F. A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux. PLOS ONE 2018, 13: e0191224. PMID: 29351342, PMCID: PMC5774751, DOI: 10.1371/journal.pone.0191224.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAmino Acid SubstitutionAnimalsAnimals, NewbornBiomarkers, TumorCalcium-Binding ProteinsChildConsanguinityConserved SequenceExonsExtracellular Matrix ProteinsFraser SyndromeGene Expression Regulation, DevelopmentalHomozygoteHumansMaleMiceModels, AnimalModels, MolecularMutation, MissensePedigreeSequence Homology, Amino AcidUrogenital AbnormalitiesUrogenital SystemVesico-Ureteral RefluxConceptsMetanephric mesenchymeUreteric budWhole-exome sequencingHomozygosity mappingIntermolecular disulfide bond formationDisulfide bond formationDirect interactorsNeomorphic effectMonogenic causesCysteine residuesHomozygous missense mutationComplex subunit 1Unpaired cysteine residueNovel CAKUTSubunit 1Homozygous missense variantFraser ComplexMissense mutationsGenesProteinInteractorsMissense variantsMutationsExome sequencingNephrogenic zone