Table 2.

Spectrum of INF2 mutations and associated phenotypes among familial and sporadic cases with glomerular proteinuric disease

FamilyFamilial/SporadicOriginNucleotide Alterations(s)Predicted Effect on ProteinExonAge at DiagnosisbncAge at ESKDbndHistology
AFamilialEuropec.227 T>Cp.L76P227 to 44728 to 706FSGS
BFamilialEuropec.530 G>Ap.R177H4244ND1FSGS
CFamilialEuropec.530 G>Ap.R177H419 to 27227 to 292FSGS
DFamilialOmanc.577 T>Cp.Y193H4241No ESKD at 25 years0FSGS
EFamilialNorth Africac.593 T>Gp.L198Ra428 to 36329 to 363FSGS
FFamilialEuropec.640 C>Tp.R214C45 to 44520 to 423FSGS
GFamilialEuropec.640 C>Tp.R214C416 to 372412FSGS
HFamilialEuropec.653 G>Ap.R218Qa410 to 242301FSGS
IFamilialEuropec.658 G>Ap.E220Ka4ND2No ESKD at 42 years0FSGS
JSporadiceEuropec.653 G>Ap.R218Qa4151No ESKD at 28 years0FSGS
  • All the mutations were found in the heterozygous state. Mutation numbering is based on the cDNA reference sequence (GenBank accession no. NM_022489.3). ND, not determined.

  • aThese mutations were reported in Brown et al.8

  • bAges given as a range over the family members.

  • cNumber of affected individuals with available age at onset of proteinuria.

  • dNumber of affected individuals with available age at ESKD.

  • eSegregation of the mutation in the family cannot be tested.