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Lookup NU author(s): Mohamed Al-Hamed, Professor John SayerORCiD
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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. © 2010 The Author. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.
Author(s): Al-Hamed M, Sayer J, Al-Hassoun I, Aldahmesh M, Meyer B
Publication type: Article
Publication status: Published
Journal: NDT Plus
Year: 2010
Volume: 3
Issue: 6
Pages: 545-548
Print publication date: 26/08/2010
ISSN (print): 1753-0784
ISSN (electronic): 1753-0792
Publisher: Oxford University Press
URL: http://dx.doi.org/10.1093/ndtplus/sfq149
DOI: 10.1093/ndtplus/sfq149
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