Steroid-resistant nephrotic syndrome(SRNS)is a leading cause of pediatric end-stage renal disease.Monogenic causes have been detected in 11%-45%of pediatric SRNS using exome sequencing,1-3 leaving a large proportion o...Steroid-resistant nephrotic syndrome(SRNS)is a leading cause of pediatric end-stage renal disease.Monogenic causes have been detected in 11%-45%of pediatric SRNS using exome sequencing,1-3 leaving a large proportion of cases without a molecular diagnosis.Here,we report employing trio exome sequencing analysis to detect established and novel causes of SRNS in an international cohort of 320 unrelated families with pediatric SRNS.展开更多
基金supported by grants from the National Institutes of Health (NIH) (No.5R01DK076683-13,RC2-DK122397 to F.H.)Sequencing and data processing were performed by the Yale Centers for Mendelian Genomics funded by the National Human Genome Research Institute (No.U54 HG006504)+9 种基金supported by the Office of Faculty Development.K.Y.,C.N.F.,and N.D.M.are supported by an NIH Training Grant (No.5T32DK007726)by the 2017 Post-doctoral Fellowship Grant from the Harvard Stem Cell Institute.A.C.O.acknowledges support from the National Institutes of Health F32 Ruth L.Kirschstein Postdoctoral Individual National Research Service Award (No.DK122766)supported by a Post-Doctoral Fellowship award from the KRESCENT Program,a national kidney research training partnership of the Kidney Foundation of Canada,the Canadian Society of Nephrology,and the Canadian Institutes of Health Research.V.K.is funded by the Deutsche Forschungsgemeinschaft grant (No.403877094)supported by a Fulbright Scholar fellowship (USEFP).K.L.is funded by the Deutsche Forschungsgemeinschaft Research Foundation (No.DFG461126211)supported by the NIH (No.5K12HD052896-13,1K08DK125768-01A1)American Society of Nephrology Norman Siegel Research Scholar Grant,and Manton Center for Orphan Disease Researchsupported by the Deutsche Forschungsgemeinschaft (German Research Foundation,No.442070894)supported by a grant from the Deutsche Forschungsgemeinschaft (German Research Foundation,No.KO 6579/2-1)supported by funding from the National Institutes of Health (No.K08-DK127011)supported by the Jiang-Li Family Foundation.
文摘Steroid-resistant nephrotic syndrome(SRNS)is a leading cause of pediatric end-stage renal disease.Monogenic causes have been detected in 11%-45%of pediatric SRNS using exome sequencing,1-3 leaving a large proportion of cases without a molecular diagnosis.Here,we report employing trio exome sequencing analysis to detect established and novel causes of SRNS in an international cohort of 320 unrelated families with pediatric SRNS.
