Chinese family

Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome

L. Q. Wu, Hu, J. J., Xue, J. J., and Liang, D. S., Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome, vol. 10, pp. 2517-2522, 2011.

Congenital nephrotic syndrome of the Finnish type (CNF) is a lethal, autosomal recessive disorder mainly caused by mutations in the NPHS1 gene; it is found at a relatively high frequency in Finns. We investigated the disease-causing mutations in a Chinese family with CNF and developed a prenatal genetic diagnosis for their latest pregnancy. Mutation analysis was made of all exons and exon/intron boundaries of NPHS1 in the fetus, parents and 50 unrelated controls using PCR and direct sequencing.

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