Table 1

Mutations in DLG5 in five individuals from four families with congenital anomalies and/or SRNS

Family (individual)PhenotypeNucleotide changeAmino acid changeExon (zygosity)PPH2 scoreCADD scoreSIFTMTSpecies of amino acid conservationgnomADSexEthnic origin
III 2–1SRNSc.497G>Ap.Arg166HisExon 3 (Cmp)0.95623.6DelDCPt, Mm, Xt, Dr0/5/245918FemaleEuropean
I 2–1CAKUT, CHD, LAc.745C>Tp.Arg249TrpExon 5 (DN)127DelDCPt, Mm, Xt, Dr0/3/242960MaleEuropean
IV 2–1CFD, HC, LAc.2461C>Tp.Arg821TerExon 15 (Hom)NA40NANANANPMaleEuropean
III 2–1SRNSc.3214C>Tp.Arg1072CysExon 15 (Cmp)0.81829.9DelDCPt, Mm, Dr0/154/277032FemaleEuropean
II 1–1CAKUTc.4526AG>TTp.Gln1509LeuExon 24 (Het)0.17923.6DelDCPt, Mm, DrNPMaleEuropean
II 2–1CAKUTc.4526AG>TTp.Gln1509LeuExon 24 (Het)0.17923.6DelDCPt, Mm, DrNPMaleEuropean

  • CADD, combined annotation-dependent depletion; CAKUT, congenital anomalies of the kidney and urinary tract; CFD, craniofacial defects; DC, disease causing; DLG5, discs large 5; Dr, Danio rerio; gnomAD, Genome Aggregation Database; HC, hydrocephalus; Het, heterozygous; Hom, homozygous; LA, limb abnormalities; Mm, mus musculus; MT, Mutation Taster (prediction software); NA, not applicable; NP, not present; PPH2, PolyPhen-2 (prediction software); Pt, pan troglodytes; SIFT, Sorting Intolerant From Tolerant (prediction software); SRNS, steroid-resistant nephrotic syndrome; Xt, Xenopus tropicalis.