title: Congenital nephrotic syndrome of Finnish type: detection of new nephrin mutations and prenatal diagnosis in an Italian family.
abstract: OBJECTIVE
  Congenital nephrotic syndrome of the Finnish type (CNF) is a rare autosomal recessive disorder, caused by mutations in the NPHS1 gene, coding for nephrin. The aim of this work was to investigate the disease mutations in a CNF Italian family and to perform genetic prenatal diagnosis in the second pregnancy.
  
  
  METHODS
  Polymerase chain reaction (PCR) and automatic sequence analysis were used to screen the CNF Italian family for NPHS1 mutations.
  
  
  RESULTS
  Two novel heterozygous mutations, including a single nucleotide insertion (c.248insA) and a missense mutation (p.S572N), were detected in the proband. Molecular prenatal diagnosis was performed on fetal DNA sample: the fetus resulted compound heterozygous for the same proband mutations.
  
  
  CONCLUSIONS
  To the best of our knowledge, this is the first report of a molecular prenatal diagnosis performed in an Italian family with congenital nephrotic syndrome of Finnish type (CNF). Our findings indicate that, even though CNF is not very common outside Finland, availability and reliability of DNA diagnostics are important issues to confirm the AFP results in prenatal diagnosis.
authors.affiliation: Department of Scienze Biomediche, Division of Nephrology, University of Foggia, Italy. iolascon@dbbm.unina.it
authors.forename: Maddalena
authors.initials: M
authors.lastname: Gigante
authors.forename: Pantaleo
authors.initials: P
authors.lastname: Greco
authors.forename: Vincenza
authors.initials: V
authors.lastname: Defazio
authors.forename: Marco
authors.initials: M
authors.lastname: Lucci
authors.forename: Maurizio
authors.initials: M
authors.lastname: Margaglione
authors.forename: Loreto
authors.initials: L
authors.lastname: Gesualdo
authors.forename: Achille
authors.initials: A
authors.lastname: Iolascon
mesh_terms: D000328:Adult; D002675:Child, Preschool; D005260:Female; D005387:Finland; D006801:Humans; D007558:Italy; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense; D009404:Nephrotic Syndrome / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D044465:White People / Q000235:genetics
chemical_list: D008565:Membrane Proteins; C113267:nephrin