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

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...

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Published inClinical 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
LanguageEnglish
Published United States American Society of Nephrology 01.04.2013
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Abstract 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 clinical genetic testing. The hypothesis was that the increasing reliability of next generation sequencing allows comprehensive one-step genetic investigation of this group and similar patient groups. This study used next generation sequencing to screen 446 genes, including the 24 genes known to be associated with hereditary steroid-resistant nephrotic syndrome. The first 36 pediatric patients collected through a national United Kingdom Renal Registry were chosen with comprehensive phenotypic detail. Significant variants detected by next generation sequencing were confirmed by conventional Sanger sequencing. Analysis revealed known and novel disease-associated variations in expected genes such as NPHS1, NPHS2, and PLCe1 in 19% of patients. Phenotypically unexpected mutations were also detected in COQ2 and COL4A4 in two patients with isolated nephropathy and associated sensorineural deafness, respectively. The presence of an additional heterozygous polymorphism in WT1 in a patient with NPHS1 mutation was associated with earlier-onset disease, supporting modification of phenotype through genetic epistasis. This study shows that next generation sequencing analysis of pediatric steroid-resistant nephrotic syndrome patients is accurate and revealing. This analysis should be considered part of the routine genetic workup of diseases such as childhood steroid-resistant nephrotic syndrome, where the chance of genetic mutation is high but requires sequencing of multiple genes.
AbstractList 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 clinical genetic testing. The hypothesis was that the increasing reliability of next generation sequencing allows comprehensive one-step genetic investigation of this group and similar patient groups. This study used next generation sequencing to screen 446 genes, including the 24 genes known to be associated with hereditary steroid-resistant nephrotic syndrome. The first 36 pediatric patients collected through a national United Kingdom Renal Registry were chosen with comprehensive phenotypic detail. Significant variants detected by next generation sequencing were confirmed by conventional Sanger sequencing. Analysis revealed known and novel disease-associated variations in expected genes such as NPHS1, NPHS2, and PLCe1 in 19% of patients. Phenotypically unexpected mutations were also detected in COQ2 and COL4A4 in two patients with isolated nephropathy and associated sensorineural deafness, respectively. The presence of an additional heterozygous polymorphism in WT1 in a patient with NPHS1 mutation was associated with earlier-onset disease, supporting modification of phenotype through genetic epistasis. This study shows that next generation sequencing analysis of pediatric steroid-resistant nephrotic syndrome patients is accurate and revealing. This analysis should be considered part of the routine genetic workup of diseases such as childhood steroid-resistant nephrotic syndrome, where the chance of genetic mutation is high but requires sequencing of multiple genes.
BACKGROUND AND OBJECTIVESUp 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 clinical genetic testing. The hypothesis was that the increasing reliability of next generation sequencing allows comprehensive one-step genetic investigation of this group and similar patient groups. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTSThis study used next generation sequencing to screen 446 genes, including the 24 genes known to be associated with hereditary steroid-resistant nephrotic syndrome. The first 36 pediatric patients collected through a national United Kingdom Renal Registry were chosen with comprehensive phenotypic detail. Significant variants detected by next generation sequencing were confirmed by conventional Sanger sequencing. RESULTSAnalysis revealed known and novel disease-associated variations in expected genes such as NPHS1, NPHS2, and PLCe1 in 19% of patients. Phenotypically unexpected mutations were also detected in COQ2 and COL4A4 in two patients with isolated nephropathy and associated sensorineural deafness, respectively. The presence of an additional heterozygous polymorphism in WT1 in a patient with NPHS1 mutation was associated with earlier-onset disease, supporting modification of phenotype through genetic epistasis. CONCLUSIONSThis study shows that next generation sequencing analysis of pediatric steroid-resistant nephrotic syndrome patients is accurate and revealing. This analysis should be considered part of the routine genetic workup of diseases such as childhood steroid-resistant nephrotic syndrome, where the chance of genetic mutation is high but requires sequencing of multiple genes.
Author Martin Christian
Stephen Marks
Hugh J. McCarthy
Manish D. Sinha
Gavin I. Welsh
Agnieszka Bierzynska
Ania Koziell
Leah Krischock
Larissa Kerecuk
on behalf of RADAR the UK SRNS Study Group
Sally Feather
Moin A. Saleem
Nicholas J.A. Webb
Matt Wherlock
Rodney D. Gilbert
Caroline Jones
Shivaram Hegde
Milos Ognjanovic
Margaret M. Williams
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Snippet 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...
BACKGROUND AND OBJECTIVESUp to 95% of children presenting with steroid-resistant nephrotic syndrome in early life will have a pathogenic single-gene mutation...
SourceID pubmedcentral
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Aggregation Database
Index Database
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StartPage 637
SubjectTerms 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
Title Simultaneous Sequencing of 24 Genes Associated with Steroid-Resistant Nephrotic Syndrome
URI http://cjasn.asnjournals.org/content/8/4/637.abstract
https://www.ncbi.nlm.nih.gov/pubmed/23349334
https://search.proquest.com/docview/1324958124
https://pubmed.ncbi.nlm.nih.gov/PMC3613958
Volume 8
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