Bakr et al. (2008) studied the spectrum of NPHS2 mutations in 16 Egyptian children with non familial steroid-resistant nephrotic syndrome (SRNS). NPHS2 mutations were evident in four patients (25%) who were bearing four novel mutations including two frame shift mutations (p.R238fs and p.P45fs) and two missense mutations (p.I136L and p.F216Y).

Al-Gazali and Ali (2010), reported three Omani families living in the United Arab Emirates with congenital nephrosis. A homozygous missense mutation (c.779T4A) in the NPHS2 gene was identified in two affected families, which resulted in a valine to glutamic acid (p.V260E) substitution. 

[Al-Gazali L, Ali BR. Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE). Hum Mutat. 2010; 31(5):505-20.]

Mbarek et al. (2011) analyzed 24 children belonging to 13 families with SRNS manifesting with various ages of onset for mutations in the NPHS1, NPHS2, PLCE1, LAMB2, and the relevant exons 8 and 9 of the WT1 genes. They found the novel p.E371fsX16 mutation in the NPHS2 gene in a single family. Nine of 24 patients failed to be categorized by mutational analysis.