title: A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family.
abstract: We report a consanguineous family from Saudi Arabia with three affected children presenting with infantile nephrotic syndrome. In order to provide a molecular diagnosis, a genome-wide SNP analysis of the affected patients was performed. We identified a region of homozygosity on chromosome 1, containing the NPHS2 gene. Direct sequencing, by exon PCR, of NPHS2 identified a homozygous nucleotide change 385C > T within exon 3 in the three affected children, leading to a premature stop codon (Q129X). This homozygous truncating mutation in NPHS2 is novel and was associated with a severe clinical phenotype. Additional mutations in related genes NPHS1, PLCE1 and NEPH1 were not identified, excluding tri-allelism within these genes in this family.
authors.affiliation: King Faisal Specialist Hospital and Research Centre , Department of Genetics, Riyadh , Saudi Arabia ; Institute of Human Genetics, International Centre of Life, Newcastle University , Central Parkway, Newcastle upon Tyne, NE1 3BZ UK.
authors.forename: Mohamed
authors.initials: M
authors.lastname: Al-Hamed
authors.affiliation: Institute of Human Genetics, International Centre of Life, Newcastle University , Central Parkway, Newcastle upon Tyne, NE1 3BZ UK.
authors.forename: John A
authors.initials: JA
authors.lastname: Sayer
authors.affiliation: King Faisal Specialist Hospital and Research Centre , Department of Genetics, Riyadh , Saudi Arabia.
authors.forename: Ibrahim
authors.initials: I
authors.lastname: Al-Hassoun
authors.affiliation: King Faisal Specialist Hospital and Research Centre , Department of Genetics, Riyadh , Saudi Arabia.
authors.forename: Mohamed A
authors.initials: MA
authors.lastname: Aldahmesh
authors.affiliation: King Faisal Specialist Hospital and Research Centre , Department of Genetics, Riyadh , Saudi Arabia.
authors.forename: Brian
authors.initials: B
authors.lastname: Meyer
keywords: NPHS2; homozygosity; nephrotic syndrome; podocin