Congenital nephrotic syndrome

Novel NPHS1 splice site mutations in a Chinese child with congenital nephrotic syndrome

R. Fu, Gou, M. F., Ma, W. H., He, J. J., Luan, Y., and Liu, J., Novel NPHS1 splice site mutations in a Chinese child with congenital nephrotic syndrome, vol. 14, pp. 433-439, 2015.

Congenital nephrotic syndrome (CNS) is defined as heavy proteinuria or nephrotic syndrome occurring before 3 months of age. It is characterized by early onset and progresses to end-stage renal disease. Recently, several genes associated with CNS have been identified, including NPHS1 and NPHS2. Mutations in the NPHS1 gene have been identified in patients with CNS in Finland with relatively high frequency. Thus far, only a few case reports about CNS have described an NPHS1 mutation in China.

Mutations in NPHS1 in a Chinese child with congenital nephrotic syndrome

Z. H. Yu, Wang, D. J., Meng, D. C., Huang, J., and Nie, X. J., Mutations in NPHS1 in a Chinese child with congenital nephrotic syndrome, vol. 11, pp. 1460-1464, 2012.

Since the identification of the NPHS1 gene, which encodes nephrin, various investigators have demonstrated that the NPHS1 mutation is a frequent cause of congenital nephrotic syndrome (CNS); it is found in 98% of Finnish children with this syndrome and in 39-80% of non-Finnish cases. In China, compound heterozygous mutations in the NPHS1 gene have been identified in two Chinese families with CNS. To our knowledge, however, whether or not NPHS1 is the causative gene in sporadic Chinese CNS cases has not been established.

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