A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family.
PMID 25949463 | PMCID PMC4421432 | DOI 10.1093/ndtplus/sfq149 · NDT plus · 2010
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.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | NPHS2 | “A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family.” | 0.98 | hgnc_dict_v1 |
| gene | NPHS1 | “Additional mutations in related genes NPHS1, PLCE1 and NEPH1 were not identified, excluding tri-allelism within these genes in this family.” | 0.98 | hgnc_dict_v1 |
| gene | PLCE1 | “Additional mutations in related genes NPHS1, PLCE1 and NEPH1 were not identified, excluding tri-allelism within these genes in this family.” | 0.98 | hgnc_dict_v1 |
| phenotype | nephrotic syndrome | “A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family. We report a consanguineous family from Saudi Arabia with three affected children presenting with infantile nephrotic syndrome. 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).” | 0.95 | saudi_context_rules_v1 |
| variant | Q129X | “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).” | 0.82 | literature_variant_regex_v2 |