High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases

Abstract

In line with previous studies in non-Iranian subjects, we most frequently identified disease-causing variants in <i>NPHS1</i> and <i>NPHS2</i>. While Sanger sequencing of <i>NPHS2</i> can be considered as first diagnostic step in non-congenital cases, the genetic heterogeneity underlying SRNS renders next-generation sequencing based diagnostics as the most efficient genetic screening method. In accordance with the mainly autosomal recessive inheritance pattern, diagnostic yield can be significantly higher in consanguineous than in outbred populations.