Whole-Exome Sequencing in Adults With Chronic Kidney Disease
Authors: Alex R. Chang, Jonathan Z. Luo, Kevin Ho, Tooraj Mirshahi, Michael F. Murray
Journal: Annals of Internal Medicine (2018)

Letters17 July 2018Whole-Exome Sequencing in Adults With Chronic Kidney DiseaseAlex R. Chang, MD, MS, Jonathan Z. Luo, PhD, Kevin Ho, MD, Tooraj Mirshahi, PhD, and Michael F. Murray, MDAlex R. Chang, MD, MSGeisinger Health System, Danville, Pennsylvania (A.R.C., J.Z.L., K.H., T.M., M.F.M.)Search for more papers by this author, Jonathan Z. Luo, PhDGeisinger Health System, Danville, Pennsylvania (A.R.C., J.Z.L., K.H., T.M., M.F.M.)Search for more papers by this author, Kevin Ho, MDGeisinger Health System, Danville, Pennsylvania (A.R.C., J.Z.L., K.H., T.M., M.F.M.)Search for more papers by this author, Tooraj Mirshahi, PhDGeisinger Health System, Danville, Pennsylvania (A.R.C., J.Z.L., K.H., T.M., M.F.M.)Search for more papers by this author, and Michael F. Murray, MDGeisinger Health System, Danville, Pennsylvania (A.R.C., J.Z.L., K.H., T.M., M.F.M.)Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/L18-0206 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail TO THE EDITOR:Lata and colleagues (1) report a new association between predicted loss-of-function (pLOF) variants in PARN and tubulointerstitial fibrosis–associated chronic kidney disease (CKD). This correlation was based on 3 observed cases of patients with end-stage renal disease younger than 48 years.This conclusion is principally based on a single father–daughter pair with nonglomerular autosomal dominant kidney disease, tubulointerstitial nephropathy (TIN) with dysplastic features found on biopsy, and a shared pLOF mutation in PARN (c.554 + 1G>A). A distinct PARN pLOF mutation (c.C643T, p.Q215*) was found in the third patient with end-stage renal disease of unknown cause, who had a history ...References1. Lata S, Marasa M, Li Y, Fasel DA, Groopman E, Jobanputra V, et al. Whole-exome sequencing in adults with chronic kidney disease: a pilot study. Ann Intern Med. 2018;168:100-9. [PMID: 29204651]. doi:10.7326/M17-1319 LinkGoogle Scholar2. Carey DJ, Fetterolf SN, Davis FD, Faucett WA, Kirchner HL, Mirshahi U, et al. The Geisinger MyCode Community Health Initiative: an electronic health record-linked biobank for precision medicine research. Genet Med. 2016;18:906-13. [PMID: 26866580] doi:10.1038/gim.2015.187 CrossrefMedlineGoogle Scholar3. Dewey FE, Murray MF, Overton JD, Habegger L, Leader JB, Fetterolf SN, et al. Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study. Science. 2016;354. [PMID: 28008009] doi:10.1126/science.aaf6814 CrossrefMedlineGoogle Scholar4. Strande NT, Riggs ER, Buchanan AH, Ceyhan-Birsoy O, DiStefano M, Dwight SS, et al. Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the clinical genome resource. Am J Hum Genet. 2017;100:895-906. [PMID: 28552198] doi:10.1016/j.ajhg.2017.04.015 CrossrefMedlineGoogle Scholar Author, Article, and Disclosure InformationAffiliations: Geisinger Health System, Danville, Pennsylvania (A.R.C., J.Z.L., K.H., T.M., M.F.M.)Disclosures: Disclosures can be viewed at www.acponline.org/authors/icmje/ConflictOfInterestForms.do?msNum=L18-0206. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetailsSee AlsoWhole-Exome Sequencing in Adults With Chronic Kidney Disease Sneh Lata , Maddalena Marasa , Yifu Li , David A. Fasel , Emily Groopman , Vaidehi Jobanputra , Hila Rasouly , Adele Mitrotti , Rik Westland , Miguel Verbitsky , Jordan Nestor , Lindsey M. Slater , Vivette D'Agati , Marcin Zaniew , Anna Materna-Kiryluk , Francesca Lugani , Gianluca Caridi , Luca Rampoldi , Aditya Mattoo , Chad A. Newton , Maya K. Rao , Jai Radhakrishnan , Wooin Ahn , Pietro A. Canetta , Andrew S. Bomback , Gerald B. Appel , Corinne Antignac , Glen S. Markowitz , Christine K. Garcia , Krzysztof Kiryluk , Simone Sanna-Cherchi , and Ali G. Gharavi Whole-Exome Sequencing in Adults With Chronic Kidney Disease Krzysztof Kiryluk , Emily Groopman , Hila Rasouly , Christine K. Garcia , and Ali G. Gharavi Metrics 17 July 2018Volume 169, Issue 2Page: 131-132KeywordsBiopsyChronic kidney diseaseDisclosureEstimated glomerular filtration rateHypertensionOdds ratioPrevention, policy, and public healthRenal diseasesRenal failure ePublished: 17 July 2018 Issue Published: 17 July 2018 Copyright & PermissionsCopyright © 2018 by American College of Physicians. All Rights Reserved.PDF downloadLoading ...