title: A CD2AP Mutation Associated with Focal Segmental Glomerulosclerosis in Young Adulthood.
abstract: Mutations in CD2-associated protein (CD2AP) have been identified in patients with focal segmental glomerulosclerosis (FSGS); however, reports of CD2AP mutations remain scarce. We performed Sanger sequencing in a patient with steroid-resistant FSGS and identified a heterozygous CD2AP mutation (p.T374A, c.1120 A > G). Our patient displayed mild cognitive decline, a phenotypic characteristic not previously associated with CD2AP-associated FSGS. His proteinuria was remarkably reduced by treatment with cyclosporine A. Our findings expand the genetic spectrum of CD2AP-associated disorders and broaden the associated phenotype with the co-occurrence of cognitive decline. Our case shows that cyclosporin A is a treatment option for CD2AP-associated nephropathy.
authors.affiliation: Nephrology/Intensive Care, Experimental and Clinical Research Center (ECRC), Charité University Medicine Berlin, Berlin, Germany.; Max Delbrück Center for Molecular Medicine, Berlin, Germany.
authors.forename: Dmitry
authors.initials: D
authors.lastname: Tsvetkov
authors.affiliation: Dialyse Neuruppin, Neuruppin, Germany.
authors.forename: Michael
authors.initials: M
authors.lastname: Hohmann
authors.affiliation: Nephrology/Intensive Care, Experimental and Clinical Research Center (ECRC), Charité University Medicine Berlin, Berlin, Germany.; Max Delbrück Center for Molecular Medicine, Berlin, Germany.
authors.forename: Yoland Marie
authors.initials: YM
authors.lastname: Anistan
authors.affiliation: Nephrology/Intensive Care, Charité Campus Virchow-Klinikum, Charité University Medicine Berlin, Berlin, Germany.
authors.forename: Marwan
authors.initials: M
authors.lastname: Mannaa
authors.affiliation: Department of Pharmacology and Experimental Therapy, Institute of Experimental and Clinical Pharmacology and Toxicology, Eberhard Karls University Hospitals and Clinics, University of Tübingen, Tübingen, Germany.; Interfaculty Center of Pharmacogenomics and Drug Research, Tübingen, Germany.
authors.forename: Christian
authors.initials: C
authors.lastname: Harteneck
authors.affiliation: Institute of Pathology, Charité University Medicine Berlin, Berlin, Germany.
authors.forename: Birgit
authors.initials: B
authors.lastname: Rudolph
authors.affiliation: Nephrology/Intensive Care, Experimental and Clinical Research Center (ECRC), Charité University Medicine Berlin, Berlin, Germany.; Max Delbrück Center for Molecular Medicine, Berlin, Germany.; Nephrology/Intensive Care, Charité Campus Virchow-Klinikum, Charité University Medicine Berlin, Berlin, Germany.
authors.forename: Maik
authors.initials: M
authors.lastname: Gollasch
keywords: CD2-associated protein (CD2AP); focal segmental glomerulosclerosis; genetics; pathology; steroid-resistant nephrotic syndrome