Table 1.

Reported PAX2 mutations in the human PAX2 allelic variant database (http://pax2.hgu.mrc.ac.uk/) and clinical phenotype associated with each mutationa

Mutation TypeMutationLocation (Nucleotide)Renal PhenotypeOcular PhenotypeOtherReference
Substitutionn.769G>A MissenseExon 3 (769)Mild renal impairmentMild eye anomalies6
n.1228C>T NonsenseExon 7 (1228)Bilateral renal hypoplasiaBilateral optic nerve coloboma21
n.1249C>T NonsenseExon 7 (1249)Bilateral renal hypoplasia; chronic renal insufficiencyAsymptomatic right optic nerve atrophy20
n.1497C>A NonsenseExon 9 (1497)Isolated renal hypoplasia; neonatal renal insufficiency; bilateral small kidneys; bilateral vesicoureteric refluxNormal20
Insertionsn.619insG Frame shiftExon 2 (619)Renal tubular atrophy; interstitial fibrosis; proteinuria; end-stage renal failureBilateral optic nerve coloboma4
n.619insG Frame shiftExon 2 (619)Bilateral renal hypoplasia; end-stage renal failure; focal segmental glomerulosclerosisBilateral optic nerve colobomaRight high-frequency hearing loss; joint laxity10
n.619insG Frame shiftExon 2 (619)Bilateral renal hypoplasia; end-stage renal failureLeft optic nerve aplasia; right optic disc hypoplasia with optic pit; chorioretinal coloboma; capsular opacities; microphthalmos; retrobulbar cystRetardation; microcephaly10
n.619insG Frame shiftExon 2 (619)Bilateral renal hypoplasiaBilateral microphthalmia; right optic nerve dysplasia1
n.619insG Frame shiftExon 2 (619)Bilateral renal hypoplasiaBilateral optic nerve coloboma1
n.619insG Frame shiftExon 2 (619)Bilateral renal hypoplasiaMorning glory syndrome1
n.619insG Frame shiftExon 2 (619)Oligomeganephronia; papillary dysplasiaNil24
n.619insGG Frame shiftExon 2 (619)Bilateral renal hypoplasiaBilateral optic nerve coloboma1
n.619insG Frame shiftExon 2 (619)Bilateral renal hypoplasiaBilateral abnormal optic discs; left macular hypoplasia; right morning glory syndrome9
n.619insG Frame shiftExon 2 (619)OligomeganephroniaBilateral optic nerve coloboma24
n.619insG Frame shiftExon 2 (619)Chronic renal insufficiencyBilateral optic nerve coloboma; myopiaArnold Chiari type I malformation7
n.619insG Frame shiftExon 2 (619)Small kidneys; progressive renal failureBilateral optic nerve coloboma with retinal detachmentBilateral cryptorchidism21
n.768–769ins6 In-frameExon 3 (768)Mild renal dysfunction; VURSevere visual impairment6
Deletionsn.602delT Frame shiftExon 2 (602)Bilateral renal hypoplasiaBilateral optic nerve colobomaRickets; umbilical and right inguinal hernia23
n.611delT Frame shiftExon 2 (611)Bilateral renal hypoplasia; left kidney VURBilateral optic nerve coloboma22
n.619delG Frame shiftExon 2 (619)Bilateral optic nerve coloboma; VURNystagmus; esotropiafourth and fifth digit clinodactyly7
n.658–663del6 In-frameExon 2 (658)OligomeganephroniaBilateral optic nerve coloboma24
n.673–694del22 Frame shiftExon 2 (673)Bilateral renal hypoplasia; proteinuria; progressive end-stage renal failureBilateral optic nerve colobomaSeizures10
n.832delG Frame shiftExon 3 (832)Unilateral renal agenesisBilateral optic nerve coloboma; severe myopia1
n.1104delC Frame shiftExon 5 (1104)Bilateral renal hypoplasia; nonfunctional right kidney; renal failure; grade IV VURBilateral optic nerve colobomaJoint laxity5
TranslocationDe novo translocationChr 10; Chr 13Renal tubular atrophy; glomerulosclerosis; mild renal dysfunction with proteinuria.Bilateral optic nerve coloboma; cataracts3
  • a VUR, vesicoureteral reflux.