The most common founder pathogenic variant c.868G > A (p.Val290Met) in the <i>NPHS2</i> gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood.

Front Med (Lausanne) · 2023 · PMC10759319 · PMID 38170106

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highly significantno p-value reported

The allelic frequency of the c.868G > A variant among the unrelated patients carrying two NPHS2 mutations in our FSGS cohort was highly significant in 6 out of 12 alleles (50% allele frequency).

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