دورية أكاديمية
Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups.
| العنوان: | Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups. |
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| المؤلفون: | Claus LR; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Snoek R; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Knoers NVAM; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands., van Eerde AM; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands. |
| المصدر: | American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2022 Sep; Vol. 190 (3), pp. 358-376. Date of Electronic Publication: 2022 Sep 26. |
| نوع المنشور: | Journal Article; Review |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Hoboken, NJ : Wiley-Blackwell Original Publication: Hoboken, NJ : Wiley-Liss, c2003- |
| مواضيع طبية MeSH: | DNA Copy Number Variations*/genetics , Renal Insufficiency, Chronic*, Humans ; Genetic Testing/methods ; Phenotype ; Kidney ; High-Throughput Nucleotide Sequencing/methods ; Nucleotides |
| مستخلص: | Genetic kidney disease comprises a diverse group of disorders. These can roughly be divided in the phenotype groups congenital anomalies of the kidney and urinary tract, ciliopathies, glomerulopathies, stone disorders, tubulointerstitial kidney disease, and tubulopathies. Many etiologies can lead to chronic kidney disease that can progress to end-stage kidney disease. Despite each individual disease being rare, together these genetic disorders account for a large proportion of kidney disease cases. With the introduction of massively parallel sequencing, genetic testing has become more accessible, but a comprehensive analysis of the diagnostic yield is lacking. This review gives an overview of the diagnostic yield of genetic testing across and within the full range of kidney disease phenotypes through a systematic literature search that resulted in 115 included articles. Patient, test, and cohort characteristics that can influence the diagnostic yield are highlighted. Detection of copy number variations and their contribution to the diagnostic yield is described for all phenotype groups. Also, the impact of a genetic diagnosis for a patient and family members, which can be diagnostic, therapeutic, and prognostic, is shown through the included articles. This review will allow clinicians to estimate an a priori probability of finding a genetic cause for the kidney disease in their patients. (© 2022 The Authors. American Journal of Medical Genetics Part C: Seminars in Medical Genetics published by Wiley Periodicals LLC.) |
| References: | Kidney Int Rep. 2019 May 29;4(9):1304-1311. (PMID: 31517149) Nephrol Dial Transplant. 2022 Jan 25;37(2):349-357. (PMID: 33306124) J Am Soc Nephrol. 2019 Feb;30(2):201-215. (PMID: 30655312) Am J Kidney Dis. 2018 Sep;72(3):411-418. (PMID: 29784615) QJM. 2017 Jul 01;110(7):453-457. (PMID: 28177086) Am J Nephrol. 2020;51(1):43-53. (PMID: 31822006) Ann Saudi Med. 2013 Nov-Dec;33(6):533-8. (PMID: 24413855) Genet Med. 2021 Jan;23(1):183-191. (PMID: 32939031) Kidney Blood Press Res. 2018;43(2):297-309. (PMID: 29529603) Nephrol Dial Transplant. 2021 Jan 25;36(2):295-305. (PMID: 31738409) Prenat Diagn. 2019 Feb;39(3):165-174. (PMID: 30650192) Nephrol Dial Transplant. 2022 Jan 25;37(2):239-254. (PMID: 34264297) Nephrology (Carlton). 2019 May;24(5):504-510. (PMID: 29633482) Clin Genet. 2021 Feb;99(2):236-249. (PMID: 33095447) Clin Genet. 2014 Sep;86(3):252-7. (PMID: 24033287) Pediatr Nephrol. 2015 Mar;30(3):487-95. (PMID: 25270717) Eur J Hum Genet. 2021 May;29(5):827-838. (PMID: 33454723) J Am Soc Nephrol. 2018 Sep;29(9):2348-2361. (PMID: 30143558) Nat Genet. 2013 Mar;45(3):299-303. (PMID: 23396133) Clin J Am Soc Nephrol. 2015 Apr 7;10(4):592-600. (PMID: 25635037) Kidney Int. 2016 Feb;89(2):468-475. (PMID: 26489029) Nephrol Dial Transplant. 2022 Mar 25;37(4):687-696. (PMID: 33532864) J Med Genet. 2017 Dec;54(12):795-804. (PMID: 28780565) Kidney Int. 2016 Feb;89(2):476-86. (PMID: 26489027) BMC Nephrol. 2018 Oct 30;19(1):301. (PMID: 30376835) J Pediatr Urol. 2021 Aug;17(4):476.e1-476.e7. (PMID: 33896740) Kidney Int. 2020 Sep;98(3):717-731. (PMID: 32450155) Prenat Diagn. 2016 May;36(5):463-8. (PMID: 26941192) Pediatr Nephrol. 2018 Oct;33(10):1701-1712. (PMID: 29974258) Nephrol Dial Transplant. 2019 Mar 1;34(3):474-485. (PMID: 30295827) Nat Genet. 2019 Apr;51(4):764. (PMID: 30816350) Mol Cytogenet. 2017 Aug 23;10:30. (PMID: 28852425) Kidney Int. 2017 Dec;92(6):1493-1506. (PMID: 28844315) N Engl J Med. 2019 Jan 10;380(2):142-151. (PMID: 30586318) J Am Soc Nephrol. 2018 Jun;29(6):1772-1779. (PMID: 29654215) Pediatr Nephrol. 2020 Oct;35(10):1941-1952. (PMID: 32394188) Sci Rep. 2020 Jan 14;10(1):270. (PMID: 31937884) Mol Genet Genomic Med. 2019 Sep;7(9):e883. (PMID: 31364286) Clin Genet. 2019 Nov;96(5):402-410. (PMID: 31328266) J Med Genet. 2016 Mar;53(3):208-14. (PMID: 26673778) Clin Chim Acta. 2020 Feb;501:207-215. (PMID: 31730820) Mol Cytogenet. 2020 Mar 24;13:11. (PMID: 32211073) J Nephrol. 2021 Oct;34(5):1767-1781. (PMID: 33226606) Kidney Int. 2017 Apr;91(4):937-947. (PMID: 28117080) Kidney Int Rep. 2019 Aug 30;4(12):1751-1759. (PMID: 31844813) Am J Med Genet A. 2021 Apr;185(4):1142-1150. (PMID: 33475249) Clin Genet. 2015 Nov;88(5):456-61. (PMID: 25307543) Kidney Int. 2018 Aug;94(2):363-371. (PMID: 29801666) J Am Soc Nephrol. 2014 Sep;25(9):1917-22. (PMID: 24700879) Kidney Int. 2019 Apr;95(4):914-928. (PMID: 30773290) BMC Nephrol. 2020 Aug 14;21(1):347. (PMID: 32799815) Kidney Int. 2022 Jun;101(6):1126-1141. (PMID: 35460632) Gene. 2017 Aug 20;625:15-20. (PMID: 28476686) Kidney Int. 2014 Jun;85(6):1429-33. (PMID: 24429398) J Hum Genet. 2018 May;63(5):647-656. (PMID: 29500469) Clin J Am Soc Nephrol. 2019 Feb 7;14(2):213-223. (PMID: 30647093) Clin J Am Soc Nephrol. 2018 Jan 6;13(1):53-62. (PMID: 29127259) J Clin Lab Anal. 2020 Nov;34(11):e23480. (PMID: 32779812) Ann Intern Med. 2018 Jan 16;168(2):100-109. (PMID: 29204651) Pediatr Nephrol. 2018 Aug;33(8):1347-1363. (PMID: 29869118) Sci Rep. 2016 Oct 26;6:35945. (PMID: 27782177) Eur J Hum Genet. 2020 Dec;28(12):1645-1655. (PMID: 32561899) J Clin Med. 2020 Mar 10;9(3):. (PMID: 32164334) PLoS One. 2016 Nov 11;11(11):e0166288. (PMID: 27835667) Kidney Int. 2017 May;91(5):1243-1255. (PMID: 28233610) Genet Med. 2021 Apr;23(4):689-697. (PMID: 33168999) Genet Med. 2018 Jul;20(7):745-753. (PMID: 29261186) Nat Genet. 2019 Nov;51(11):1560-1565. (PMID: 31676867) Pediatr Nephrol. 2017 Jul;32(7):1181-1192. (PMID: 28204945) J Am Soc Nephrol. 2015 Jun;26(6):1279-89. (PMID: 25349199) J Med Genet. 2016 May;53(5):338-47. (PMID: 26862157) Genet Med. 2017 Aug;19(8):875-882. (PMID: 28125082) Genet Med. 2020 Jan;22(1):142-149. (PMID: 31337885) NPJ Genom Med. 2021 Mar 4;6(1):20. (PMID: 33664247) PLoS One. 2020 Jun 23;15(6):e0235071. (PMID: 32574212) Nephrol Dial Transplant. 2017 Oct 01;32(10):1665-1675. (PMID: 28387813) Am J Hum Genet. 2012 Dec 7;91(6):987-97. (PMID: 23159250) Eur J Med Genet. 2021 Apr;64(4):104183. (PMID: 33639313) Clin Exp Nephrol. 2019 Aug;23(8):1022-1030. (PMID: 30989420) Am J Hum Genet. 2016 Aug 4;99(2):318-36. (PMID: 27486776) Prenat Diagn. 2020 Sep;40(10):1290-1299. (PMID: 32436246) Genet Med. 2017 Apr;19(4):412-420. (PMID: 27657687) Pediatr Nephrol. 2018 Feb;33(2):305-314. (PMID: 28921387) Clin Chim Acta. 2020 Jul;506:136-144. (PMID: 32173348) Kidney Int. 2019 Jul;96(1):222-230. (PMID: 31027891) Nephrol Dial Transplant. 2016 Oct;31(10):1693-8. (PMID: 26932690) Clin J Am Soc Nephrol. 2013 Apr;8(4):637-48. (PMID: 23349334) Kidney Int. 2018 Jan;93(1):204-213. (PMID: 28893421) Mol Cytogenet. 2019 Jul 05;12:31. (PMID: 31312255) Clin Genet. 2018 Jul;94(1):125-131. (PMID: 29520754) Clin Genet. 2015 Nov;88(5):462-7. (PMID: 25307721) J Clin Lab Anal. 2020 Jan;34(1):e23025. (PMID: 31506986) Front Genet. 2020 May 07;11:464. (PMID: 32457805) Front Genet. 2021 May 17;12:575830. (PMID: 34079576) Am J Kidney Dis. 2020 Oct;76(4):460-470. (PMID: 32359821) J Am Soc Nephrol. 2016 Apr;27(4):1245-53. (PMID: 26283675) Kidney Int. 2018 Apr;93(4):961-967. (PMID: 29398133) Syst Rev. 2016 Dec 5;5(1):210. (PMID: 27919275) Nephrol Dial Transplant. 2016 Jun;31(6):961-70. (PMID: 26346198) Kidney Int. 2018 Nov;94(5):1013-1022. (PMID: 30348286) Mol Cell Probes. 2015 Oct;29(5):299-307. (PMID: 26003401) J Am Soc Nephrol. 2017 Apr;28(4):1020-1022. (PMID: 28302756) Cold Spring Harb Mol Case Stud. 2020 Oct 7;6(5):. (PMID: 32723786) Clin Genet. 2018 Apr;93(4):860-869. (PMID: 29194579) Genet Med. 2020 Aug;22(8):1374-1383. (PMID: 32398770) J Hum Genet. 2013 Jul;58(7):480-9. (PMID: 23595123) Lancet. 2010 Apr 10;375(9722):1287-95. (PMID: 20382325) Nat Rev Nephrol. 2016 Aug;12(8):472-83. (PMID: 27374918) Am J Med Genet C Semin Med Genet. 2022 Sep;190(3):358-376. (PMID: 36161467) J Pediatr Urol. 2016 Aug;12(4):227.e1-7. (PMID: 27160979) Hum Mutat. 2021 Mar;42(3):300-309. (PMID: 33348466) J Am Soc Nephrol. 2017 Jan;28(1):69-75. (PMID: 27151922) J Am Soc Nephrol. 2016 Jun;27(6):1861-8. (PMID: 26453610) J Med Genet. 2015 Aug;52(8):514-22. (PMID: 26092869) J Am Soc Nephrol. 2012 May;23(5):915-33. (PMID: 22383692) BMC Med Genomics. 2016 Aug 11;9(1):52. (PMID: 27514372) Hum Genet. 2019 Mar;138(3):211-219. (PMID: 30778725) World J Urol. 2021 Jul;39(7):2759-2765. (PMID: 32936332) Eur J Hum Genet. 2021 May;29(5):760-770. (PMID: 33437033) J Am Soc Nephrol. 2014 Dec;25(12):2740-51. (PMID: 24854265) Kidney Int. 2019 Dec;96(6):1408-1416. (PMID: 31672324) J Am Soc Nephrol. 2015 Jan;26(1):230-6. (PMID: 25060053) J Am Soc Nephrol. 2017 Oct;28(10):2901-2914. (PMID: 28566479) Genet Med. 2020 Jun;22(6):1025-1035. (PMID: 32203225) Clin J Am Soc Nephrol. 2020 Jan 7;15(1):89-100. (PMID: 31831576) Genet Med. 2021 Dec;23(12):2468. (PMID: 34302124) Pediatr Nephrol. 2018 Oct;33(10):1713-1721. (PMID: 29956005) |
| فهرسة مساهمة: | Keywords: CKD; CNV; MPS; diagnostic yield; genetic testing; nephrogenetics; review |
| المشرفين على المادة: | 0 (Nucleotides) |
| تواريخ الأحداث: | Date Created: 20220926 Date Completed: 20221031 Latest Revision: 20230127 |
| رمز التحديث: | 20230128 |
| مُعرف محوري في PubMed: | PMC9828643 |
| DOI: | 10.1002/ajmg.c.31995 |
| PMID: | 36161467 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1552-4876 |
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| DOI: | 10.1002/ajmg.c.31995 |