Critical Considerations in Genetic Counseling of Patients With the NPHS2 R229Q Variant

Rood et al1 discussed genetic counseling of patients with the R229Q variant of NPHS2, the gene encoding podocin, in steroid-resistant nephrotic syndrome (SRNS). Our results2 are partly misinterpreted because the authors present all exon 7 to 8 mutations as pathogenic in combination with R229Q. We classified the mutations based on their location (exons 1-6 vs. exons 7-8) only to show that R229Q is typically associated with exons 7-8 mutations in affected individuals and thus to suggest the mutation-dependent pathogenicity of R229Q.

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