Rare diseases, rare presentations: Recognizing atypical inherited kidney disease phenotypes in the age of genomics

Clinical Kidney Journal

Volumn 10, Issue 5, 2017, Pages 586-593

  Ars, Elisabet ^a   Torra, Roser ^a  

^a UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

Author keywords

ADPKD; ESRD; Fabry disease; FSGS; Gene expression; Inherited kidney diseases; NGS; Phenotype

Indexed keywords

AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE DISORDER; AWARENESS; DYSLIPIDEMIA; EDEMA; ENVIRONMENTAL FACTOR; EPIGENETICS; FABRY DISEASE; GENE MUTATION; GENETIC DISORDER; GENETIC HETEROGENEITY; GENETIC SCREENING; GENOMICS; HETEROZYGOTE; HUMAN; HYPOALBUMINEMIA; INHERITANCE; KIDNEY DISEASE; KIDNEY POLYCYSTIC DISEASE; MODIFIER GENE; MOSAICISM; NEPHROLOGIST; PHENOTYPE; PRIORITY JOURNAL; PROTEINURIA; RARE DISEASE; REVIEW; X CHROMOSOME INACTIVATION;

EID: 85037991301     PISSN: 20488505     EISSN: 20488513     Source Type: Journal    
DOI: 10.1093/ckj/sfx051     Document Type: Review

References (64)

1. Schieppati A, Henter JI, Daina E et al. Why rare diseases are an important medical and social issue. Lancet 2008;371:2039-2041
2. Devuyst O, Knoers NV, Remuzzi G et al. Rare inherited kidney diseases: challenges, opportunities, and perspectives. Lancet 2014;383:1844-1859
3. Vivante A, Hildebrandt F. Exploring the genetic basis of early-onset chronic kidney disease. Nat Rev Nephrol 2016;12:133-146
4. Soliman NA. Orphan kidney diseases. Nephron Clin Pract 2012;120:c194-c199
5. Eckardt KU, Alper SL, Antignac C et al. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management-A KDIGO consensus report. Kidney Int 2015;88:676-683
6. Clissold RL, Hamilton AJ, Hattersley AT et al. HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum. Nat Rev Nephrol 2015;11:102-112
7. Santin S, Bullich G, Tazon-Vega B et al. Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol 2011;6:1139-1148
8. Santin S, Tazon-Vega B, Silva I et al. Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol 2011;6:344-354
9. Bullich G, Trujillano D, Santin S et al. Targeted nextgeneration sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity. Eur J Hum Genet 2015;23:1192-1199
10. Lovric S, Fang H, Vega-Warner V et al. Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol 2014;9:1109-1116
11. Gbadegesin RA, Winn MP, Smoyer WE. Genetic testing in nephrotic syndrome-challenges and opportunities. Nat Rev Nephrol 2013;9:179-184
12. Benoit G, Machuca E, Antignac C. Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations. Pediatr Nephrol 2010;25:1621-1632
13. McCarthy HJ, Bierzynska A, Wherlock M et al. Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol 2013;8:637-648
14. Gast C, Pengelly RJ, Lyon M et al. Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis. Nephrol Dial Transplant 2016;31:961-970
15. Stokman MF, Renkema KY, Giles RH et al. The expanding phenotypic spectra of kidney diseases: insights from genetic studies. Nat Rev Nephrol 2016;12:472-483
16. Glockle N, Kohl S, Mohr J et al. Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. Eur J Hum Genet 2013
17. Braun DA, Lawson JA, Gee HY et al. Prevalence of monogenic causes in pediatric patients with nephrolithiasis or nephrocalcinosis. Clin J Am Soc Nephrol 2016;11:664-672
18. Otto EA, Ramaswami G, Janssen S et al. Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. J Med Genet 2011;48:105-116
19. Braun DA, Schueler M, Halbritter J et al. Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. Kidney Int 2016;89:468-475
20. Gee HY, Otto EA, Hurd TW et al. Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies. Kidney Int 2014;85:880-887
21. Ovunc B, Otto EA, Vega-Warner V et al. Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria. J Am Soc Nephrol 2011;22:1815-1820
22. Richards S, Aziz N, Bale S et al. 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 2015;17:405-424
23. Jones AC, Shyamsundar MM, Thomas MW et al. Comprehensive mutation analysis of TSC1 and TSC2- and phenotypic correlations in 150 families with tuberous sclerosis. Am J Hum Genet 1999;64:1305-1315
24. Hateboer N, Dijk MA, Bogdanova N et al. Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group. Lancet 1999;353:103-107
25. Gunay-Aygun M, Tuchman M, Font-Montgomery E et al. PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. Mol Genet Metab 2010;99:160-173
26. Cornec-Le GE, Audrezet MP, Chen JM et al. Type of PKD1 Mutation Influences Renal Outcome in ADPKD. J Am Soc Nephrol 2013;24:1006-1013
27. Hopp K, Ward CJ, Hommerding CJ et al. Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity. J Clin Invest 2012;122:4257-4273
28. Devuyst O, Thakker RV. Dent's disease. Orphanet J Rare Dis 2010;5:28
29. Torra R, Tazon-Vega B, Ars E et al. Collagen type IV (alpha3-alpha4) nephropathy: from isolated haematuria to renal failure. Nephrol Dial Transplant 2004;19:2429-2432
30. Ayasreh-Fierro N, Ars-Criach E, Lopes-Martin V et al. Familial chronic interstitial nephropathy with hyperuricaemia caused by the UMOD gene. Nefrologia 2013;33:587-592
31. Katsanis N. The oligogenic properties of Bardet-Biedl syndrome. Hum Mol Genet 2004;13 Spec No 1:R65-R71
32. Hoefele J, Wolf MT, O'Toole JF et al. Evidence of oligogenic inheritance in nephronophthisis. J Am Soc Nephrol 2007;18:2789-2795
33. Mencarelli MA, Heidet L, Storey H et al. Evidence of digenic inheritance in Alport syndrome. J Med Genet 2015;52:163-174
34. Lemaire M, Fremeaux-Bacchi V, Schaefer F et al. Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nat Genet 2013;45:531-536
35. Mele C, Lemaire M, Iatropoulos P et al. Characterization of a new DGKE intronic mutation in genetically unsolved cases of familial atypical hemolytic uremic syndrome. Clin J Am Soc Nephrol 2015;10:1011-1019
36. Sanchez CD, Pinto S, Hoppe B et al. Complement mutations in diacylglycerol kinase-epsilon-associated atypical hemolytic uremic syndrome. Clin J Am Soc Nephrol 2014;9:1611-1619
37. Vujic M, Heyer CM, Ars E et al. Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD. J Am Soc Nephrol 2010;21:1097-1102
38. Persu A, Duyme M, Pirson Y et al. Comparison between siblings and twins supports a role for modifier genes in ADPKD. Kidney Int 2004;66:2132-2136
39. Nicolaou N, Renkema KY, Bongers EM et al. Genetic, environmental, and epigenetic factors involved in CAKUT. Nat Rev Nephrol 2015;11:720-731
40. Migeon BR. X inactivation, female mosaicism, and sex differences in renal diseases. J Am Soc Nephrol 2008;19:2052-2059
41. Vetrie D, Flinter F, Bobrow M et al. X inactivation patterns in females with Alport's syndrome: a means of selecting against a deleterious gene? J Med Genet 1992;29:663-666
42. Echevarria L, Benistan K, Toussaint A et al. X-chromosome inactivation in female patients with Fabry disease. Clin Genet 2016;89:44-54
43. Jais JP, Knebelmann B, Giatras I et al. X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a 'European Community Alport Syndrome Concerted Action' study. J Am Soc Nephrol 2003;14:2603-2610
44. Mansour-Hendili L, Blanchard A, Le PN et al. Mutation update of the CLCN5 gene responsible for Dent disease 1. Hum Mutat 2015;36:743-752
45. Nissim-Rafinia M, Kerem B. The splicing machinery is a genetic modifier of disease severity. Trends Genet 2005;21:480-483
46. Ars E, Tazon-Vega B, Ruiz P et al. Male-to-male transmission of X-linked Alport syndrome in a boy with a 47, XXY karyotype. Eur J Hum Genet 2005;13:1040-1046
47. Alport AC. Hereditary familial congenital haemorrhagic nephritis. Br Med J 1927;1:504-506
48. Kashtan C. Gene Reviews, 1-22. 2016. Seattle, WA: University of Washington, 2015
49. Kamiyoshi N, Nozu K, Fu XJ et al. Genetic, clinical, and pathologic backgrounds of patients with autosomal dominant Alport Syndrome. Clin J Am Soc Nephrol 2016;11:1441-1449
50. Germain DP. Fabry disease. Orphanet J Rare Dis 2010;5:30
51. Eng CM, Desnick RJ. Molecular basis of Fabry disease: mutations and polymorphisms in the human alphagalactosidase A gene. Hum Mutat 1994;3:103-111
52. Santin S, Ars E, Rossetti S et al. TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis. Nephrol Dial Transplant 2009;24:3089-3096
53. Grantham JJ, Torres VE, Chapman AB et al. Volume progression in polycystic kidney disease. N Engl J Med 2006;354:2122-2130
54. Audrezet MP, Cornec-Le GE, Chen JM et al. Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. Hum Mutat 2012;33:1239-1250
55. Rossetti S, Hopp K, Sikkink RA et al. Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing. J Am Soc Nephrol 2012;23:915-933
56. Trujillano D, Bullich G, Ossowski S et al. Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing. Mol Genet Genomic Med 2014;2:412-421
57. Porath B, Gainullin VG, Cornec-Le GE et al. Mutations in GANAB, encoding the glucosidase ii alpha subunit, cause autosomal-dominant polycystic kidney and liver disease. Am J Hum Genet 2016;98:1193-1207
58. Bergmann C, von BJ, Ortiz BN et al. Mutations in multiple PKD genes may explain early and severe polycystic kidney disease. J Am Soc Nephrol 2011;22:2047-2056
59. Buscher R, Buscher AK, Weber S et al. Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): kidney-related and non-kidney-related phenotypes. Pediatr Nephrol 2013
60. Onuchic LF, Furu L, Nagasawa Y et al. PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexintranscription-factor domains and parallel beta-helix 1 repeats. Am J Hum Genet 2002;70:1305-1317
61. Denamur E, Delezoide AL, Alberti C et al. Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease. Kidney Int 2010;77:350-358
62. Bergmann C, Senderek J, Windelen E et al. Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). Kidney Int 2005;67:829-848
63. Huynh CE, Bizet AA, Boyer O et al. A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. J Am Soc Nephrol 2014;25:2435-2443
64. Bullich G, Vargas I, Trujillano D et al. Contribution of the TTC21B gene to glomerular and cystic kidney diseases. Nephrol Dial Transplant 2016