Whole-Exome Sequencing in Adults With Chronic Kidney Disease
Authors: Krzysztof Kiryluk, Emily Groopman, Hila Rasouly, Christine K. Garcia, Ali G. Gharavi
Journal: Annals of Internal Medicine (2018)

Letters17 July 2018Whole-Exome Sequencing in Adults With Chronic Kidney DiseaseKrzysztof Kiryluk, MD, MS, Emily Groopman, BA, Hila Rasouly, PhD, Christine K. Garcia, MD, and Ali G. Gharavi, MDKrzysztof Kiryluk, MD, MSColumbia University, New York, New York (K.K., E.G., H.R., A.G.G.)Search for more papers by this author, Emily Groopman, BAColumbia University, New York, New York (K.K., E.G., H.R., A.G.G.)Search for more papers by this author, Hila Rasouly, PhDColumbia University, New York, New York (K.K., E.G., H.R., A.G.G.)Search for more papers by this author, Christine K. Garcia, MDUniversity of Texas Southwestern Medical Center, Dallas, Texas (C.K.G.)Search for more papers by this author, and Ali G. Gharavi, MDColumbia University, New York, New York (K.K., E.G., H.R., A.G.G.)Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/L18-0207 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail IN RESPONSE:We studied patients carefully selected for familial, early-onset, or undiagnosed nephropathy; DiscovEHR assessed a general population recruited from a local health care system. Differences in patient ascertainment and phenotyping may therefore account for the seemingly discrepant findings. Moreover, distinguishing between phenotypic expansion for a known genetic disorder and discovery of a new human disease gene is important in assessing gene–disease associations. Heterozygous mutations in PARN cause dominant telomeropathy (Online Mendelian Inheritance in Man 616371); this phenotype is characterized by multiorgan fibrosis, including that involving the lungs, bone marrow, and liver (1–4). We report TIN as a phenotypic expansion ...References1. Newton CA, Batra K, Torrealba J, Kozlitina J, Glazer CS, Aravena C, et al. Telomere-related lung fibrosis is diagnostically heterogeneous but uniformly progressive. Eur Respir J. 2016;48:1710-20. [PMID: 27540018] doi:10.1183/13993003.00308-2016 CrossrefMedlineGoogle Scholar2. Mathai SK, Newton CA, Schwartz DA, Garcia CK. Pulmonary fibrosis in the era of stratified medicine. Thorax. 2016;71:1154-60. [PMID: 27799632] doi:10.1136/thoraxjnl-2016-209172 CrossrefMedlineGoogle Scholar3. Armanios M. Telomerase and idiopathic pulmonary fibrosis. Mutat Res. 2012;730:52-8. [PMID: 22079513] doi:10.1016/j.mrfmmm.2011.10.013 CrossrefMedlineGoogle Scholar4. Stuart BD, Choi J, Zaidi S, Xing C, Holohan B, Chen R, et al. Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. Nat Genet. 2015;47:512-7. [PMID: 25848748] doi:10.1038/ng.3278 CrossrefMedlineGoogle Scholar Author, Article, and Disclosure InformationAffiliations: Columbia University, New York, New York (K.K., E.G., H.R., A.G.G.)University of Texas Southwestern Medical Center, Dallas, Texas (C.K.G.)Disclosures: Disclosures can be viewed at www.acponline.org/authors/icmje/ConflictOfInterestForms.do?msNum=M17-1319. 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 Alex R. Chang , Jonathan Z. Luo , Kevin Ho , Tooraj Mirshahi , and Michael F. Murray Metrics 17 July 2018Volume 169, Issue 2Page: 132-133KeywordsBiopsyDisclosureFibrosisGenetic diseasesKidneysLiver fibrosisLungsMutationPulmonary fibrosisUrine ePublished: 17 July 2018 Issue Published: 17 July 2018 Copyright & PermissionsCopyright © 2018 by American College of Physicians. All Rights Reserved.PDF downloadLoading ...