title: Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.
abstract: Congenital nephrotic syndrome, Finnish type (CNF or NPHS1), is an autosomal recessive disease characterized by massive proteinuria and development of nephrotic syndrome shortly after birth. The disease is most common in Finland, but many patients have been identified in other populations. The disease is caused by mutations in the gene for nephrin which is a key component of the glomerual ultrafilter, the podocyte slit diaphragm. A total of 30 mutations have been reported in the nephrin gene in patients with congenital nephrotic syndrome worldwide. In the Finnish population, two main mutations have been found. These two nonsense mutations account for over 94% of all mutations in Finland. Most mutations found in non-Finnish patients are missense mutations, but they include also nonsense and splice site mutations, as well as deletions and insertions. This mutation update summarizes the nature of all previously reported nephrin mutations and, additionally, describes 20 novel mutations recently identified in our laboratory.
authors.affiliation: Division of Matrix Biology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
authors.forename: O
authors.initials: O
authors.lastname: Beltcheva
authors.forename: P
authors.initials: P
authors.lastname: Martin
authors.forename: U
authors.initials: U
authors.lastname: Lenkkeri
authors.forename: K
authors.initials: K
authors.lastname: Tryggvason
mesh_terms: D018389:Codon, Nonsense / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005387:Finland; D005808:Genes, Recessive / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D008565:Membrane Proteins; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D009404:Nephrotic Syndrome / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics; D011506:Proteins / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics
chemical_list: D018389:Codon, Nonsense; D008565:Membrane Proteins; D011506:Proteins; D022821:RNA Splice Sites; C113267:nephrin