Simultaneous Sequencing of 24 Genes Associated with Steroid-Resistant Nephrotic Syndrome

• Published in: Clinical journal of the American Society of Nephrology Vol. 8; no. 4; pp. 637 - 648
• Main Authors: McCarthy, Hugh J, Bierzynska, Agnieszka, Wherlock, Matt, Ognjanovic, Milos, Kerecuk, Larissa, Hegde, Shivaram, Feather, Sally, Gilbert, Rodney D, Krischock, Leah, Jones, Caroline, Sinha, Manish D, Webb, Nicholas J A, Christian, Martin, Williams, Margaret M, Marks, Stephen, Koziell, Ania, Welsh, Gavin I, Saleem, Moin A
• Format: Journal Article
• Language: English
• Published: United States American Society of Nephrology 01.04.2013
• Subjects: Adolescent; Algorithms; Child; Child, Preschool; Drug Resistance - genetics; Epistasis, Genetic; Female; Genetic Testing - methods; Genetic Testing - trends; Genetic Variation; Genotype; Humans; Infant; Infant, Newborn; Male; Nephrotic Syndrome - congenital; Nephrotic Syndrome - drug therapy; Nephrotic Syndrome - genetics; Original; Phenotype; Polymorphism, Genetic; Predictive Value of Tests; Sequence Analysis, DNA - methods; Sequence Analysis, DNA - trends; Transcriptome; United Kingdom

Up to 95% of children presenting with steroid-resistant nephrotic syndrome in early life will have a pathogenic single-gene mutation in 1 of 24 genes currently associated with this disease. Others may be affected by polymorphic variants. There is currently no accepted diagnostic algorithm for clinic...