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- Title
A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family.
- Authors
Al-Hamed, Mohamed; Sayer, John A.; Al-Hassoun, Ibrahim; Aldahmesh, Mohamed A.; Meyer, Brian
- 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.
- Subjects
SAUDI Arabia; NEPHROTIC syndrome in children; NUCLEOTIDES; GENETIC mutation; GENETIC disorders; MOLECULAR diagnosis
- Publication
NDT Plus, 2010, Vol 3, Issue 6, p545
- ISSN
1753-0784
- Publication type
Article
- DOI
10.1093/ndtplus/sfq149