Genomics Integration Into Nephrology Practice

Skrunes, 2014, Familial clustering of ESRD in the Norwegian population, Clin J Am Soc Nephrol, 9, 1692, 10.2215/CJN.01680214 McClellan, 2009, Individuals with a family history of ESRD are a high-risk population for CKD: implications for targeted surveillance and intervention activities, Am J Kidney Dis, 53, S100, 10.1053/j.ajkd.2008.07.059 Connaughton, 2015, The Irish Kidney Gene Project—prevalence of family history in patients with kidney disease in Ireland, Nephron, 130, 293, 10.1159/000436983 Groopman, 2019, diagnostic utility of exome sequencing for kidney disease, N Engl J Med, 380, 142, 10.1056/NEJMoa1806891 Jayasinghe, 2021, Clinical impact of genomic testing in patients with suspected monogenic kidney disease, Genet Med, 23, 183, 10.1038/s41436-020-00963-4 Bissler, 2008, Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis, N Engl J Med, 358, 140, 10.1056/NEJMoa063564 Kingswood, 2014, The effect of everolimus on renal angiomyolipoma in patients with tuberous sclerosis complex being treated for subependymal giant cell astrocytoma: subgroup results from the randomized, placebo-controlled, phase 3 trial EXIST-1, Nephrol Dial Transplant, 29, 1203, 10.1093/ndt/gfu013 Odland, 2021, A patient perspective on genetic testing for ADPKD: the lack of complete genetic information, especially early in the course of the disease, is harming adult autosomal dominant polycystic kidney disease (ADPKD) patients, Clin J Am Soc Nephrol, 16, 671, 10.2215/CJN.14051119 Umeukeje, 2019, You are just now telling us about this? African American perspectives of testing for genetic susceptibility to kidney disease, J Am Soc Nephrol, 30, 526, 10.1681/ASN.2018111091 Ali, 2019, PKD1 Duplicated regions limit clinical utility of whole exome sequencing for genetic diagnosis of autosomal dominant polycystic kidney disease, Sci Rep, 9, 4141, 10.1038/s41598-019-40761-w Connaughton, 2019, Monogenic causes of chronic kidney disease in adults, Kidney Int, 95, 914, 10.1016/j.kint.2018.10.031 Cocchi, 2020, Clinical genetic screening in adult patients with kidney disease, Clin J Am Soc Nephrol, 15, 1497, 10.2215/CJN.15141219 Groopman, 2018, Genomic medicine for kidney disease, Nat Rev Nephrol, 14, 83, 10.1038/nrneph.2017.167 Richards, 2015, Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, Genet Med, 17, 405, 10.1038/gim.2015.30 Oda, 1997, Mutations in the human Jagged1 gene are responsible for Alagille syndrome, Nat Genet, 16, 235, 10.1038/ng0797-235 Yucel, 2010, Renal abnormalities in a family with Alagille syndrome, Neth J Med, 68, 38 Subramaniam, 2011, Diagnosis of Alagille syndrome-25 years of experience at King’s College Hospital, J Pediatr Gastroenterol Nutr, 52, 84, 10.1097/MPG.0b013e3181f1572d Hannoush, 2017, New JAG1 mutation causing Alagille syndrome presenting with severe hypercholesterolemia: case report with emphasis on genetics and lipid abnormalities, J Clin Endocrinol Metab, 102, 350 Kirby, 2013, Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing, Nat Genet, 45, 299, 10.1038/ng.2543 Eckardt, 2015, Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—a KDIGO consensus report, Kidney Int, 88, 676, 10.1038/ki.2015.28 Hopp, 2020, Detection and characterization of mosaicism in autosomal dominant polycystic kidney disease, Kidney Int, 97, 370, 10.1016/j.kint.2019.08.038 Thomas, 2020, Initial experience from a renal genetics clinic demonstrates a distinct role in patient management, Genet Med, 22, 1025, 10.1038/s41436-020-0772-y Nestor, 2020, Pilot study of return of genetic results to patients in adult nephrology, Clin J Am Soc Nephrol, 15, 651, 10.2215/CJN.12481019 Rasouly, 2019, The burden of candidate pathogenic variants for kidney and genitourinary disorders emerging from exome sequencing, Ann Intern Med, 170, 11, 10.7326/M18-1241 Lata, 2018, Whole-exome sequencing in adults with chronic kidney disease: a pilot study, Ann Intern Med, 168, 100, 10.7326/M17-1319 Landini, 2020, Reverse phenotyping after whole-exome sequencing in steroid-resistant nephrotic syndrome, Clin J Am Soc Nephrol, 15, 89, 10.2215/CJN.06060519 Van der Ven, 2018, Whole-exome sequencing identifies causative mutations in families with congenital anomalies of the kidney and urinary tract, J Am Soc Nephrol, 29, 2348, 10.1681/ASN.2017121265 Mantovani, 2020, Gene panel analysis in a large cohort of patients with autosomal dominant polycystic kidney disease allows the identification of 80 potentially causative novel variants and the characterization of a complex genetic architecture in a subset of families, Front Genet, 11, 464, 10.3389/fgene.2020.00464 Heyer, 2016, Predicted mutation strength of nontruncating PKD1 mutations aids genotype-phenotype correlations in autosomal dominant polycystic kidney disease, J Am Soc Nephrol, 27, 2872, 10.1681/ASN.2015050583 Lavu, 2020, The value of genotypic and imaging information to predict functional and structural outcomes in ADPKD, JCI Insight, 5, 10.1172/jci.insight.138724 Connor, 2008, Mosaicism in autosomal dominant polycystic kidney disease revealed by genetic testing to enable living related renal transplantation, Am J Transplant, 8, 232, 10.1111/j.1600-6143.2007.02030.x Porath, 2016, Mutations in GANAB, encoding the glucosidase IIa subunit, cause autosomal-dominant polycystic kidney and liver disease, Am J Hum Genet, 98, 1193, 10.1016/j.ajhg.2016.05.004 Durkie, 2021, Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease, Genet Med, 23, 689, 10.1038/s41436-020-01026-4 Lanktree, 2021, Insights into autosomal dominant polycystic kidney disease from genetic studies, Clin J Am Soc Nephrol, 16, 790, 10.2215/CJN.02320220 Milliner, 2020, End points for clinical trials in primary hyperoxaluria, Clin J Am Soc Nephrol, 15, 1056, 10.2215/CJN.13821119 Alkanderi, 2017, Lessons learned from a multidisciplinary renal genetics clinic, QJM, 110, 453, 10.1093/qjmed/hcx030 Mallett, 2016, A multidisciplinary renal genetics clinic improves patient diagnosis, Med J Aust, 204, 58, 10.5694/mja15.01157 Lundquist, 2020, From theory to reality: establishing a successful kidney genetics clinic in the outpatient setting, Kidney360, 1, 1099, 10.34067/KID.0004262020 Jayasinghe, 2021, Attitudes and practices of Australian nephrologists toward implementation of clinical genomics, Kidney Int Rep, 6, 272, 10.1016/j.ekir.2020.10.030 Farrugia, 2013, Challenges in implementing genomic medicine: the Mayo Clinic Center for Individualized Medicine, Clin Pharmacol Ther, 94, 204, 10.1038/clpt.2013.52 Tory, 2014, Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome, Nat Genet, 46, 299, 10.1038/ng.2898 Chun, 2020, Autosomal dominant tubulointerstitial kidney disease-uromodulin misclassified as focal segmental glomerulosclerosis or hereditary glomerular disease, Kidney Int Rep, 5, 519, 10.1016/j.ekir.2019.12.016 Sadowski, 2015, A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome, J Am Soc Nephrol, 26, 1279, 10.1681/ASN.2014050489 Storey, 2013, COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome, J Am Soc Nephrol, 24, 1945, 10.1681/ASN.2012100985 Weber, 2016, Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy, Pediatr Nephrol, 31, 941, 10.1007/s00467-015-3302-4 Nykamp, 2017, Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria, Genet Med, 19, 1105, 10.1038/gim.2017.37 Hu, 2014, Hereditary features, treatment, and prognosis of the lipoprotein glomerulopathy in patients with the APOE Kyoto mutation, Kidney Int, 85, 416, 10.1038/ki.2013.335 Hureaux, 2019, High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults, Kidney Int, 96, 1408, 10.1016/j.kint.2019.08.027 Kang, 2005, Familial hypomagnesemia with hypercalciuria and nephrocalcinosis associated with CLDN16 mutations, Pediatr Nephrol, 20, 1490, 10.1007/s00467-005-1969-7 Bergwitz, 2006, SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis, Am J Hum Genet, 78, 179, 10.1086/499409 Dasgupta, 2014, Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis, J Am Soc Nephrol, 25, 2366, 10.1681/ASN.2013101085 Haito-Sugino, 2012, Processing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria, Am J Physiol Cell Physiol, 302, C1316, 10.1152/ajpcell.00314.2011 Gee, 2015, KANK deficiency leads to podocyte dysfunction and nephrotic syndrome, J Clin Invest, 125, 2375, 10.1172/JCI79504 Ashraf, 2018, Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment, Nat Commun, 9, 1960, 10.1038/s41467-018-04193-w