Table 1.

Potentially pathogenic variants identified in the patients included in the study

SamplesPotentially Pathogenic VariantsState of VariantsInheritanceRefs.Prediction of Pathogenicity of Variants
In Silico AnalysisAA Conservation among Species
PolyPhenPMut
Patient 1NPHS2 c.[-52C>G]+[-52C>G]HomozygousAROleggini et al.16
Patient 2NPHS2 c.[419delG]+[419delG]; p.[Gly140Aspfs*41]+[Gly140Aspfs*41]HomozygousARBoute et al.17
Patient 3NPHS2 c.[413G>A]+[467_468insT]; p.[Arg138Gln]+[Leu156Phefs*11]Compound heterozygousARBoute et al.17; Caridi et al.18
Patient 4NPHS2 c.[104insG]+[1143delC]; p.[Gly35Glyfs*35]+[Pro381Profs*5]Compound heterozygousARBoute et al.17; Berdeli et al.19
Patient 5NPHS2 c. [771C>T]+[911C>T]; p.[Arg229Gln]+[Ser304Phe]Compound heterozygousARTsukaguchi et al.20Pos damPath++a
Patient 6PLCE1 c.[4570_4571delAT]+[2277G>T]; p.[Met1524Alafs*5]+[Arg548Leu]Compound heterozygousARProb damPath+++b
Patient 7PLCE1 c.[2038C>T]+[4327G>A]; p.[Gln680*]+[Gly1443Arg]Compound heterozygousARProb damPath+++b
Patient 8ACTN4 c.[782C>A]+[=]; p.[Val261Glu]+[=]HeterozygousADProb damPath+++b
Patient 9ACTN4 c.[464T>C]+[=]; p.[Ile155Thr]+[=]HeterozygousADProb damNeu+++b
Patient 10LMX1B c.[833C>T]+[=]; p.[Ala278Val]+[=]HeterozygousADProb damPath+++b
  • AR, autosomal recessive; AD, autosomal dominant; Pos dam, possibly damaging; Path, pathologic; Prob dam, probably damaging; Neu, neutral; AA, amino acid.

  • a Medium conservation.

  • b High conservation.