Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5%of 320 families with steroid-resistant nephrotic syndrome  

作　　者：Ronen Schneider Shirlee Shril Florian Buerger Konstantin Deutsch Kirollos Yousef Camille N.Frank Ana C.Onuchic-Whitford Thomas M.Kitzler Youying Mao Verena Klambt Muhammad Y.Zahoor Katharina Lemberg Amar J.Majmundar Bshara Mansour Ken Saida Steve Seltzsam Caroline M.Kolvenbach Lea Maria Merz Nils D.Mertens Tobias Hermle Nina Mann Dalia Pantel Abdul A.Halawi Aaron Bao Luca Schierbaum Sophia Schneider Daanya Salmanullah Iddo Z.Ben Dov Itamar Sagiv Loai A.Eid Hazem Subhi H.Awad Muna Al Saffar Neveen A.Soliman Marwa M.Nabhan Jameela A.Kari Sherif El Desoky Mohamed A.Shalaby Said Ooda Hanan M.Fathy Shrikant Mane Richard P.Lifton Michael J.G.Somers Friedhelm Hildebrandt 

机构地区：[1]Department of Pediatrics,Boston Children's Hospital,Harvard Medical School,Boston,MA 02115,USA [2]Division of Renal Medicine,Department of Medicine,Brigham and Women's Hospital,Harvard Medical School,Boston,MA 02115,USA [3]Institute of Biochemistry&Biotechnology,University of Veterinary&Animal Sciences,Lahore 54000,Pakistan [4]Institute of Anatomy,Medical Faculty,University of Bonn,Bonn D-53113,Germany [5]Department of Pediatrics,University Hospital Leipzig,Leipzig 04103,Germany [6]Institute of Human Genetics,Heidelberg University,Heidelberg 69117,Germany [7]Department of Nephrology and Hypertension,Hadassah Medical Center and the Faculty of Medicine,Hebrew University of Jerusalem,Jerusalem 91120,Israel [8]Pediatric Nephrology Department,Dubai Hospital,Dubai 14660,United Arab Emirates [9]Department of Pediatrics,United Arab Emirates University,Abu Dhabi 15551,United Arab Emirates [10]Department of Pediatrics,Center of Pediatric Nephrology&Transplantation,Kasr Al Ainy School of Medicine,Cairo University,Cairo 11562,Egypt [11]Egyptian Group for Orphan Renal Diseases(EGORD),Cairo 11451,Egypt [12]Department of Pediatrics,Faculty of Medicine,King Abdulaziz University,Jeddah 21589,Saudi Arabia [13]Pediatric Nephrology Center of Excellence,King Abdulaziz University Hospital,Jeddah 21589,Saudi Arabia [14]Experimental and Clinical Internal Medicine Department,Medical Research Institute,Alexandria University,Alexandria 21511,Egypt [15]Department of Pediatrics,Faculty of Medicine,Alexandria University,Alexandria 21526,Egypt [16]Department of Genetics,Yale University School of Medicine,NewHaven,CT06510,USA

出　　处：《Genes & Diseases》2025年第2期25-28,共4页基因与疾病(英文)

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);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 Research;supported 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.

摘　　要：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.

关 键 词：PEDIATRIC nephrotic RESISTANT 

分 类 号：R72[医药卫生—儿科]