Congenital nephrotic syndrome of the Finnish type in Italy: a molecular approach.

摘要: BACKGROUND Congenital nephrotic syndrome of the Finnish type (CNF) is an autosomal recessive disorder mainly caused by mutations in nephrin gene (NPHS1). The frequency this highest Finland but condition occurs all populations, with and without ancestry. NPHS1 located chromosomal region 19q13.1 consists 29 exons. METHODS Polymerase chain reaction (PCR), restriction sequence analyses were used to screen 15 CNF Italian patients for gene. RESULTS No had typical mutations, a 2bp deletion exon 2 (Fin-major) nonsense mutation 26 (Fin-minor). We found 13 including deletions, insertions, missense mutations. Seven these have never been described before. also one nucleotide change promoter common polymorphism. confirmed analysis healthy control population. CONCLUSIONS Our study provides further evidence that loss function main cause congenital patients.