American Journal of Kidney Diseases
Volume 51, Issue 5 , Pages 834-838 , May 2008

Familial Focal Segmental Glomerulosclerosis Associated With an ACTN4 Mutation and Paternal Germline Mosaicism

  • Hyun Jin Choi, MD

      Affiliations

    • Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea
    • ,
  • Beom Hee Lee, MD

      Affiliations

    • Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea
    • ,
  • Hee Yeon Cho, MD

      Affiliations

    • Department of Pediatrics, Gachon University Gil Medical Center, Incheon, Korea
    • ,
  • Kyung Chul Moon, MD, PhD

      Affiliations

    • Department of Pathology, Seoul National University Hospital, Seoul, Korea
    • ,
  • Il Soo Ha, MD, PhD

      Affiliations

    • Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea
    • ,
  • Michio Nagata, MD, PhD

      Affiliations

    • Department of Pathology, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan.
    • ,
  • Yong Choi, MD, PhD

      Affiliations

    • Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea
    • ,
  • Hae Il Cheong, MD, PhD

      Affiliations

    • Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea
    • Corresponding Author InformationAddress correspondence to Hae Il Cheong, MD, PhD, Department of Pediatrics, Seoul National University Children's Hospital, 28 Yongon-Dong, Chongro-Gu, Seoul 110-744, Korea.

Received 23 July 2007 ,Accepted 2 January 2008.

References 

  1. Kaplan JM, Kim SH, North KN, et al. Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis. Nat Genet. 2000;24:251–256
  2. Weins A, Kenlan P, Herbert S, et al. Mutational and biological analysis of α-actinin-4 in focal segmental glomerulosclerosis. J Am Soc Nephrol. 2005;16:3694–3701
  3. D'Agati VD, Fogo AB, Bruijn JA, Jennette JC. Pathologic classification of focal segmental glomerulosclerosis: A working proposal. Am J Kidney Dis. 2004;43:368–382
  4. Albaqumi M, Soos TJ, Barisoni L, Nelson PJ. Collapsing glomerulopathy. J Am Soc Nephrol. 2006;17:2854–2863
  5. Honda K, Yamada T, Endo R, et al. Actinin-4, a novel actin-bundling protein associated with cell motility and cancer invasion. J Cell Biol. 1998;140:1383–1393
  6. Pollak MP, Alexander MP, Henderson JM. A case of familial kidney disease. Clin J Am Soc Nephrol. 2007;2:1367–1374
  7. Demmer L, Primack W, Loik V, Brown R, Therville N, Mcelreavey K. Frasier syndrome: A cause of focal segmental glomerulosclerosis in a 46,XX female. J Am Soc Nephrol. 1999;10:2215–2218
  8. Chak WL, To KF, Cheng YL, et al. Gonadal mosaicism of Frasier syndrome in 3 Chinese siblings with donor splice site mutation of Wilms' tumor gene. Nephron. 2002;91:526–529
  9. Alwaheeb S, Henderson JM, Weins A, Dandapani SV, Pollak MR. Alpha-actinin-4 deficient mice develop focal and segmental glomerulosclerosis with features of collapsing glomerulopathy. Mod Pathol. 2007;20:271A;(abstr)
  10. Michaud JL, Chaisson KM, Parks RJ, Kennedy CR. FSGS-associated α-actinin-4 (K256E) impairs cytoskeletal dynamics in podocytes. Kidney Int. 2006;70:1054–1061
  11. Smeets B, Dijkman HB, Wetzels JF, Steenbergen EJ. Lessons from studies on focal segmental glomerulosclerosis: An important role for parietal epithelial cells?. J Pathol. 2006;210:263–272
  12. Dijkman H, Smeets B, van der Laak J, Steenbergen E, Wetzels J. The parietal epithelial cell is crucially involved in human idiopathic focal segmental glomerulosclerosis. Kidney Int. 2005;68:1562–1572

PII: S0272-6386(08)00131-5

doi: 10.1053/j.ajkd.2008.01.018

American Journal of Kidney Diseases
Volume 51, Issue 5 , Pages 834-838 , May 2008

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