uu.seUppsala University Publications
Change search
ReferencesLink to record
Permanent link

Direct link
Novel INF2 mutation p. L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
Show others and affiliations
2013 (English)In: Pediatric nephrology (Berlin, West), ISSN 0931-041X, E-ISSN 1432-198X, Vol. 28, no 2, 339-343 p.Article in journal (Refereed) Published
Abstract [en]

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

Place, publisher, year, edition, pages
2013. Vol. 28, no 2, 339-343 p.
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-194184DOI: 10.1007/s00467-012-2299-1ISI: 000313431600021OAI: oai:DiVA.org:uu-194184DiVA: diva2:605234
Available from: 2013-02-13 Created: 2013-02-11 Last updated: 2013-03-05Bibliographically approved

Open Access in DiVA

No full text

Other links

Publisher's full text
By organisation
Department of Women's and Children's Health
In the same journal
Pediatric nephrology (Berlin, West)
Medical and Health Sciences

Search outside of DiVA

GoogleGoogle Scholar
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Altmetric score

Total: 185 hits
ReferencesLink to record
Permanent link

Direct link