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The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood.
Thomasová D, Zelinová M, Libik M, Geryk J, Votýpka P, Rajnochová Bloudíčková S, Krejčí K, Reiterová J, Jančová E, Machová J, Kollárová M, Rychík I, Havrda M, Horáčková M, Putzová M, Šafránek R, Kollár M, Macek M Jr. Thomasová D, et al. Among authors: rajnochova bloudickova s. Front Med (Lausanne). 2023 Dec 19;10:1320054. doi: 10.3389/fmed.2023.1320054. eCollection 2023. Front Med (Lausanne). 2023. PMID: 38170106 Free PMC article.
Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.
Živná M, Kidd K, Přistoupilová A, Barešová V, DeFelice M, Blumenstiel B, Harden M, Conlon P, Lavin P, Connaughton DM, Hartmannová H, Hodaňová K, Stránecký V, Vrbacká A, Vyleťal P, Živný J, Votruba M, Sovová J, Hůlková H, Robins V, Perry R, Wenzel A, Beck BB, Seeman T, Viklický O, Rajnochová-Bloudíčková S, Papagregoriou G, Deltas CC, Alper SL, Greka A, Bleyer AJ, Kmoch S. Živná M, et al. Among authors: rajnochova bloudickova s. J Am Soc Nephrol. 2018 Sep;29(9):2418-2431. doi: 10.1681/ASN.2018020180. Epub 2018 Jul 2. J Am Soc Nephrol. 2018. PMID: 29967284 Free PMC article.