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

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

BackgroundGenetic focal segmental glomerulosclerosis (FSGS) is caused by pathogenic variants in a broad spectrum of genes that have a variable representation based on subjects' ethnicity and/or age. The most frequently mutated autosomal recessive gene in FSGS is NPHS2. In this study, we analyze...

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Main Authors: Dana Thomasová, Michaela Zelinová, Malgorzata Libik, Jan Geryk, Pavel Votýpka, Silvie Rajnochová Bloudíčková, Karel Krejčí, Jana Reiterová, Eva Jančová, Jana Machová, Martina Kollárová, Ivan Rychík, Martin Havrda, Miroslava Horáčková, Martina Putzová, Roman Šafránek, Marek Kollár, Milan Macek
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-12-01
Series:Frontiers in Medicine
Subjects:
end-stage renal disease
exome sequencing
focal segmental glomerulosclerosis
nephrotic syndrome
NPHS2
proteinuria
Online Access:https://www.frontiersin.org/articles/10.3389/fmed.2023.1320054/full

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https://www.frontiersin.org/articles/10.3389/fmed.2023.1320054/full

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