Pediatric Nephrology

, Volume 28, Issue 2, pp 339–343

Novel INF2 mutation p. L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy

  • Patricia Q. Rodriguez
  • Bernhard Lohkamp
  • Gianni Celsi
  • Christoph Johannes Mache
  • Michaela Auer-Grumbach
  • Annika Wernerson
  • Nobuyuki Hamajima
  • Karl Tryggvason
  • Jaakko Patrakka
Brief Report

DOI: 10.1007/s00467-012-2299-1

Cite this article as:
Rodriguez, P.Q., Lohkamp, B., Celsi, G. et al. Pediatr Nephrol (2013) 28: 339. doi:10.1007/s00467-012-2299-1

Abstract

Background

Mutations in inverted formin, FH2, and WH2 domain containing (INF2) are common causes of dominant focal segmental glomerulosclerosis. INF2 encodes a member of the diaphanous-related formin family, which regulates actin and microtubule cytoskeletons. Charcot-Marie-Tooth neuropathy (CMT) is a group of inherited disorders affecting peripheral neurons. Many reports have shown that glomerulopathy can associate with CMT. However, it has been unclear whether these two processes in the same individual represent one disorder or if they are two separate diseases.

Case diagnosis/treatment

Recently, INF2 mutations were identified in 12 of 16 patients with CMT-associated glomerulopathy, suggesting that these mutations are a common cause of the dual phenotype. In this study, we report two cases of CMT-associated glomerulopathy that both showed INF2 mutations. A novel INF2 mutation, p. L77P, was identified in a family in which the dual phenotype was inherited in a dominant fashion. The pathogenic effect of p. L77P was proposed using a structural homology model. In addition, we identified a patient with a sporadic CMT-associated glomerulopathy carrying a known INF2 mutation: p. L128P.

Conclusions

Our study confirms the link between INF2 mutations and CMT-associated glomerulopathy and widens the spectrum of pathogenic mutations.

Keywords

INF2FSGSCharcot-marie-tooth disease

Supplementary material

467_2012_2299_MOESM1_ESM.docx (25 kb)
Supplementary Table 1(DOCX 24.7 kb)

Copyright information

© IPNA 2012

Authors and Affiliations

  • Patricia Q. Rodriguez
    • 1
  • Bernhard Lohkamp
    • 2
  • Gianni Celsi
    • 3
  • Christoph Johannes Mache
    • 4
  • Michaela Auer-Grumbach
    • 5
  • Annika Wernerson
    • 6
  • Nobuyuki Hamajima
    • 7
  • Karl Tryggvason
    • 1
  • Jaakko Patrakka
    • 1
  1. 1.Division of Matrix Biology, Department of Medical Biochemistry and BiophysicsKarolinska InstitutetStockholmSweden
  2. 2.Division of Structural Biology, Department of Medical Biochemistry and BiophysicsKarolinska InstitutetStockholmSweden
  3. 3.Uppsala University Children’s HospitalUppsalaSweden
  4. 4.Department of General Pediatrics, University Children’s HospitalMedical University GrazGrazAustria
  5. 5.Division of Endocrinology and Metabolism, Department of Internal MedicineMedical University GrazGrazAustria
  6. 6.Department of Clinical Science, Technology and Intervention, Division of Renal MedicineKarolinska InstitutetStockholmSweden
  7. 7.Department of Preventive MedicineNagoya University Graduate School of MedicineNagoyaJapan