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