COL4A3 mutations cause focal segmental glomerulosclerosis

Journal of Molecular Cell Biology

Volumn 6, Issue 6, 2014, Pages 498-505

  Xie, Jingyuan ^a   Wu, Xiaoxi ^a   Ren, Hong ^a   Wang, Weiming ^a   Wang, Zhaohui ^a   Pan, Xiaoxia ^a   Hao, Xu ^a   Tong, Jun ^a   Ma, Jun ^a   Ye, Zhibin ^b   Meng, Guoyu ^a   Zhu, Yufei ^a   Kiryluk, Krzysztof ^c   Kong, Xiangyin ^a   Hu, Landian ^a   Chen, Nan ^a  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b HUADONG HOSPITAL AFFILIATED TO FUDAN UNIVERSITY   (China)

^c Och Spine at New York Presbyterian Hospitals   (United States)

Author keywords

COL4A3; COL4A4; FSGS; mutation

Indexed keywords

COL4A3 PROTEIN; COL4A4 PROTEIN; PROTEIN; UNCLASSIFIED DRUG; AUTOANTIGEN; COL4A4 PROTEIN, HUMAN; COLLAGEN TYPE 4; TYPE IV COLLAGEN ALPHA3 CHAIN;

ADULT; ALPORT SYNDROME; AMINO ACID SEQUENCE; ARTICLE; CHINESE; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; EYE DISEASE; FEMALE; FOCAL GLOMERULOSCLEROSIS; GENE MUTATION; GENE SEQUENCE; GENETIC CONSERVATION; GENETIC SCREENING; GENETIC VARIABILITY; GLOMERULUS BASEMENT MEMBRANE; HEARING IMPAIRMENT; HUMAN; MALE; MICROSCOPY; NEXT GENERATION SEQUENCING; PATHOGENESIS; PREDICTION; SINGLE NUCLEOTIDE POLYMORPHISM; FAMILY; GENETICS; METABOLISM; MIDDLE AGED; MUTATION; PATHOLOGY; PEDIGREE;

ADULT; AUTOANTIGENS; COLLAGEN TYPE IV; FAMILY; FEMALE; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE;

EID: 84922434232     PISSN: 16742788     EISSN: 17594685     Source Type: Journal    
DOI: 10.1093/jmcb/mju040     Document Type: Article

References (36)

1. Abrahamson, D.R., Hudson, B.G., Stroganova, L., et al. (2009). Cellular origins of type IV collagen networks in developing glomeruli. J. Am. Soc. Nephrol. 20, 1471-1479.
2. +/- mice: an animal model for thin basement membrane nephropathy. J. Am. Soc. Nephrol. 17, 1986-1994.
3. Boyer, O., Benoit, G., Gribouval, O., et al. (2011). Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis. J. Am. Soc. Nephrol. 22, 239-245.
4. Brown, E.J., Schlondorff, J.S., Becker, D.J., et al. (2010). Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. Nat. Genet. 42, 72-76.
5. Caridi,G., Bertelli, R., Scolari, F., et al. (2003). Podocinmutations in sporadic focal-segmental glomerulosclerosis occurring in adulthood. Kidney Int. 64, 365.
6. Chatterjee, R., Hoffman, M., Cliften, P., et al. (2013). Targeted exome sequencing integrated with clinicopathological information reveals novel and rare mutations in atypical, suspected and unknown cases of Alport syndromeor proteinuria. PLoS One 8, e76360.
7. Ciccarese, M., Casu, D., Ki Wong, F., et al. (2001). Identification of a new mutation in the alpha4(IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolaemia. Nephrol. Dial. Transplant. 16, 2008-2012.
8. Cosio, F.G., Falkenhain, M.E., and Sedmak,D.D. (1994). Association of thin glomerular basement membrane with other glomerulopathies. Kidney Int. 46, 471-474.
9. D'Agati, V.D., Fogo, A.B., Bruijn, J.A., et al. (2004). Pathologic classification of focal segmental glomerulosclerosis: a working proposal. Am. J. Kidney Dis. 43, 368-382.
10. Dai, S., Wang, Z., Pan, X., et al. (2010). Functional analysis of promoter mutations in the ACTN4 and SYNPO genes in focal segmental glomerulosclerosis. Nephrol. Dial. Transplant. 25, 824-835.
11. Gigante, M., Pontrelli, P., Montemurno, E., et al. (2009). CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS). Nephrol. Dial. Transplant. 24, 1858-1864.
12. Hasselbacher, K., Wiggins, R.C., Matejas, V., et al. (2006). Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. Kidney Int. 70, 1008-1012.
13. Jefferson, J.A., Lemmink, H.H., Hughes, A.E., et al. (1997). Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4). Nephrol. Dial. Transplant. 12, 1595-1599.
14. Kaplan, J.M., Kim, S.H., North, K.N., et al. (2000). Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. Nat. Genet. 24, 251-256.
15. Karle, S.M., Uetz, B., Ronner, V., et al. (2002). Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. J. Am. Soc. Nephrol. 13, 388-393.
16. Kashtan, C.E. (1999). Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes. Medicine (Baltimore) 78, 338-360.
17. Kestilä, M., Lenkkeri, U.,Männikkö, M., et al. (1998). Positionally cloned gene for a novel glomerular protein-nephrin-is mutated in congenital nephrotic syndrome. Mol. Cell 1, 575-582.
18. Kim, J.M., Wu, H., Green, G., et al. (2003). CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility. Science 300, 1298-1300.
19. Koziell, A.B., Grundy, R., Barratt, T.M., et al. (1999). Evidence for the genetic heterogeneity of nephropathic phenotypes associated with Denys-Drash and Frasier syndromes. Am. J. Hum. Genet. 64, 1778-1781.
20. Lemmink, H.H., Schroder, C.H., Monnens, L.A., et al. (1997). The clinical spectrum of type IV collagen mutations. Hum. Mutat. 9, 477-499.
21. Longo, I., Scala, E., Mari, F., et al. (2006). Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families. Nephrol. Dial. Transplant. 21, 665-671.
22. Malone, A.F., Phelan, P.J., Hall, G., et al. (2014). Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis. Kidney Int. 86, 1253-1259.
23. Pieri, M., Stefanou, C., Zaravinos, A., et al. (2014). Evidence for activation of the unfolded protein response in collagen IV nephropathies. J. Am. Soc. Nephrol. 25, 260-275.
24. Pierides, A., Voskarides, K., Athanasiou, Y., et al. (2009). Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis. Nephrol. Dial. Transplant. 24, 2721-2729.
25. Pochet, J.M., Bobrie, G., Landais, P., et al. (1989). Renal prognosis in Alport's and related syndromes: influence of the mode of inheritance. Nephrol. Dial. Transplant. 4, 1016-1021.
26. Rajpar, M.H., McDermott, B., Kung, L., et al. (2009). Targeted induction of endoplasmic reticulum stress induces cartilage pathology. PLoS Genet. 5, e1000691.
27. Reiser, J., Polu, K.R., Moller, C.C., et al. (2005). TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function. Nat. Genet. 37, 739-744.
28. Savige, J., Gregory, M., Gross, O., et al. (2013). Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy. J. Am. Soc. Nephrol. 24, 364-375.
29. Storey, H., Savige, J., Sivakumar, V., et al. (2013). COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome. J. Am. Soc. Nephrol. 24, 1945-1954.
30. van der Loop, F.T., Heidet, L., Timmer, E.D., et al. (2000). Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation. Kidney Int. 58, 1870-1875.
31. Voskarides, K., Damianou, L., Neocleous, V., et al. (2007). COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy. J. Am. Soc. Nephrol. 18, 3004-3016.
32. Winn, M.P., Conlon, P.J., Lynn, K.L., et al. (2005). A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. Science 308, 1801-1804.
33. Xie, J., and Chen, N. (2013). Primary glomerulonephritis in mainland China: an overview. Contrib. Nephrol. 181, 1-11.
34. Yoshida, H. (2007). ER stress and diseases. FEBS J. 274, 630-658.
35. Zhang, Q., Ma, J., Xie, J., et al. (2013). Screening of ACTN4 and TRPC6 mutations in a Chinese cohort of patients with adult-onset familial focal segmental glomerulosclerosis. Contrib. Nephrol. 181, 91-100.
36. Zhu, B., Chen, N., Wang, Z.H., et al. (2009). Identification and functional analysis of a novel TRPC6 mutation associated with late onset familial focal segmental glomerulosclerosis in Chinese patients. Mutat. Res. 664, 84-90.