Table 2.

Mutations and phenotypes in patients with HNF1B mutations that are not complete deletions

ProbandsNucleotide ChangeProtein ChangeExon (Intron)ReferencePrenatal Renal PhenotypePostnatal Renal PhenotypeMutation Inheritance
43c.3G→Ap.Met1Ile1This studyBilateral cortical cystsBilateral cortical microcysts, normal GFR at 7 years; father with renal cystsMutation in the father
44c.3G→Ap.Met1IleBilateral cortical cystsBilateral cortical microcysts, normal GFR at 7 years; father with diabetes and renal cystsMutation in the father
45c.211 delAAGGGCCp.Lys71fs1This studyNDHypodysplastic kidneys with microcysts, GFR 45 at 28 years; father with hyperuricemic nephropathy (GFR unknown)Mutation in the father
46c.232G→Tp.Glu78X1This studyNormal ultrasoundBilateral cortical cysts, ESRF at 3 monthsDe novo
47c.232G→Tp.Glu78X1MCD ×2TOP; septated uterusND
48c.322 delGp.Ala108fs1This studyNDHyperuricemic nephropathy, ESRF at 33 years; father with hyperuricemic nephropathy (with kidney graft) and diabetesMutation in the father
49IVS1 345–1G→A(1)This studyBilateral hyperechogenic kidneysBilateral cortical cysts, neonatal renal failure, normal GFR at 8 yearsND
50IVS1 345–1G→A(1)Unilateral agenesis + hyperechogenic kidneySingle hyperechogenic kidney + CRF (GFR 25 at 17 years)ND (parents not tested)
51c.452C→Gp.Ser151Cys2This studyUnilateral MCDUnilateral MCD and cortical cysts on the other kidney, normal GFR at 6 yearsND
52c.476C→Tp.Pro159Leu2This studyBilateral hyperechogenic kidneysIsolated hyperechogenic kidneys, ultrasound normalized (size and echogenicity) at 10 months, normal GFR at 10 monthsND
53c.494 G→Ap.Arg165His2(20)NDSmall hyperechogenic kidneys, CRF (GFR 16 at 4 years); father with renal failure and diabetesND
54c.494G→Cp.Arg165Pro2This studyBilateral hyperechogenic kidneysBilateral hyperechogenic hypoplastic kidneys CRF (GFR 32 at 10 years) + pancreatic hypoplasiaDe novo
55c.513G→Ap.Trp171X2This studyBilateral hyperechogenic kidneysBilateral cortical cysts, normal GFR at 11 monthsND
56IVS2 544 + 3delAAGT(2)(6)NDRenal cysts and VUR, normal GFR at 6 years; mother with unilateral cysts and gestational diabetes, normal GFR at 30 yearsMutation in the mother
57IVS2 544 + 3delAAGT(2)NDSingle kidney, gout, CRF (GFR 25 at 65 years); mother and maternal cousin with renal failure; daughter with single kidneyND
58IVS2 544 + 3delAAGT(2)NDCysts, CRF (GFR 60 at 33 years), diabetes, hyperuricemia, elevated liver enzymes, hypomagnesaemia; father with ESRFND
59c.544C→Tp.Gln182X2(20)NDHyperechogenic kidneys, CRF (but unknown GFR); diabetes in the mother.Mutation in the mother
60c.544C→Tp.Gln182X2Unilateral MCD, other kidney with cystsUnilateral MCD, other kidney with cortical cysts, normal GFR at 3 monthsND
61c.544C→Tp.Gln182X2Unilateral agenesisSingle hypoplastic hyperechogenic kidney, CRF (GFR 55 at 7 years)ND
62c.758A→Cp.Gln253Pro3(3)Bilateral MCDTOP cysts in mother (GFR 62 at 25 years) and grandmotherMutation in the mother
63c.717delGp.Ser242fs3This studyBilateral hyperechogenic kidneysHyperechogenic kidneys, cortical microcysts, normal GFR at 1.5 years; father with renal cysts and diabetesMutation in the father
64c.766C→Tp.Pro256Ser3This studyBilateral hyperechogenic kidneysBilateral cortical cysts, normal-sized kidneys, normal GFR at 8 years; phenotype in the father unknownMutation in the father
65IVS3 809 + 1G→A(3)This studyBilateral hyperechogenic kidneys, bilateral cystsBilateral cortical cysts, unilateral UPJ, neonatal renal failure, normal GFR at 3 years; family history of diabetes; phenotype in the father unknownMutation in the father
66c.840delCp.Pro280fs4This studyEnlarged kidneys, large cysts, pyelic dilation, duplicity, pancreas hypoplasiaTOPND
67c.854G→Ap.Gly285Asp(17)Bilateral hyperechogenic kidneysBilateral hyperechogenic kidneys + unilateral cortical microcysts, normal GFR at 3 years; mother with renal cysts, GFR 55 at 35 yearsMutation in the mother
68c.883C→Tp.Arg295Cys4(17)NDSmall and cystic kidneys (unknown GFR); mother with renal cysts and CRF (precise GFR unknown)Mutation in the mother
69c.883C→Tp.Arg295Cys4Bilateral hyperechogenic kidneys, bilateral cortical cystsCortical cysts, hyperuricemia, neonatal renal failure, normal GFR at 8 yearsDe novo
70c.895T→GpTrp299Gly4This studyBilateral hyperechogenic kidneys, bilateral cortical microcystsBilateral hyperechogenic kidneys, cortical microcysts CRF (GFR 51 at 3 years)ND
71c.766C→Tp.Asn302Lys4This studyBilateral hyperechogenic kidneysBilateral cortical cysts, CRF (GFR 60 at 7 years)ND
72Exon 4 deletion c.810_1045 del236p.Arg270fs4(3,13)Unilateral MCDAbsence of hypertrophy of the contralateral kidney, VUR, CRF (GFR 65 at 4 years)De novo
73c.1136C→Ap.Ser379X5This studyNDHyperechogenic kidneys, cortical microcysts, CRF (GFR 61 at 15 years), didelphic uterus + pancreatic hypoplasiaDe novo
74c.1360C→Tp.Gln454X7This studyUnilateral MCD, other kidney hyperechogenicUnilateral MCD, other kidney hyperechogenic with cortical microcysts, normal GFR at 2 yearsDe novo
75c.delAG1363–1364p.Ser455fs7This studyBilateral hyperechogenic kidneysBilateral cortical cysts, left hypoplastic kidney CRF (GFR 80 at 14 years)ND
  • CRF, chronic renal failure; ESRF, end-stage renal failure; UPJ, ureteropelvic junction.