A study of an extended family of Chinese ancestry with focal segmental glomerulosclerosis (FSGS) has resulted in the identification of a novel Ser85Trp mutation in INF2 that leads to podocyte skeletal abnormalities. Sequencing of all INF2 exons in an additional 55 families with FSGS and 200 ethnicity-matched healthy controls revealed the overall frequency of INF2 mutations to be 3.6% among Chinese patients with familial FSGS.
References
Xie, J. et al. Novel mutations in the inverted formin 2 gene of Chinese families contribute to focal segmental glomerulosclerosis. Kidney Int. 10.1038/ki.2015.106
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INF2 mutations and FSGS in Chinese families. Nat Rev Nephrol 11, 444 (2015). https://doi.org/10.1038/nrneph.2015.104
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DOI: https://doi.org/10.1038/nrneph.2015.104
