From: Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort
Patient ID | Gender | Age at initial presentation | Age progressed to ESRD | Phenotype category | Diagnosis of Kidney disease | renal biopsy | VCUG | Ocular phenotype | non-renal, non-ophthalmological phenotypes | Pathogenic variants (c change, p change, segregation) | Type of pathogenic variants | HGMD | Frequency in gomAD (east Asia);Ref SNP ID | ACMG classfication | Segregation | RefSNP ID |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C3 | M | 8 yrs | Unknown | RCS | Bilateral renal hypodysplasia | IgA nephropathy (Hass IV) | Normal | Bilateral optic disk dysplasia | No abnormal | c.43 + 1G > A (de novo) | Splice site | CS122242 | None | P |  |  |
C18 | F | 17 yrs | 17 yrs | CAKUT | Bilateral renal hypodysplasia, VUR | NA | VUR | Nystagmus | No abnormal | c.69delC, p.Leu23Leufs*6 (de novo) | Frameshift | CD118561 | None | P | De novo | Â |
C1 | M | 1 yrs | 10 yrs | RCS | Bilateral renal hypodysplasia, CKD5 | NA | NA | Unilateral optic disc coloboma, choroid anomalies | No abnormal | c.76dupG, p.Val26Glyfs*28 (de novo) | Frameshift | CD992538 | None | P | De novo | Â |
C2 | M | 5 yrs | 5 yrs | RCS | Multicyclic dysplasia kidney, CKD 5 | NA | NA | Bilateral papillary dysplasia | Bilateral oblique inguinal hernia | c.76dupG, p.Val26Glyfs*28 (de novo) | Frameshift | CI951965 | None | P | De novo | Â |
C4 | F | 1 yrs | 6 yrs | CAKUT | Bilateral renal hypodysplasia, CKD 5 | NA | Abnormal urinary bladder morphology | NA | Unilateral oblique inguinal hernia | c.76dupG, p.Val26Glyfs*28 (de novo) | Frameshift | CI951965 | None | P | De novo | Â |
C7 | M | 6.8 yrs | Unknown | Nephrosis | Bilateral cystic kidney disease, CKD 4 | FSGS | NA | Normal | No abnormal | c.76dupG, p.Val26Glyfs*28 (de novo) | Frameshift | CI951965 | None | P | De novo | Â |
C8 | M | 8.2 yrs | Unknown | Nephrosis | Bilateral cystic kidney disease, CKD 4 | NA | NA | Normal | β-thalassemia | c.76dupG, p.Val26Glyfs*28(de novo) | Frameshift | CI951965 | None | P | De novo |  |
C16 | F | 13 yrs | Unknown | RCS | Bilateral renal hypodysplasia, CKD 4 | NA | Bilateral | Unilateral optic disk dysplasia | No abnormal | c.76dupG, p.Val26Glyfs*28 (de novo) | Frameshift | CI951965 | None | P | De novo | Â |
919 | M | 24 yrs | Unknown | Nephrosis | Bilateral renal hypodysplasia, CKD 3 | NA | NA | NA | No abnormal | c.76dupG, p.Val26Glyfs*28 (het; sibling, het) | Frameshift | CI951965 | None | P | Affected siblings | Â |
920 | M | 22 yrs | Unknown | Nephrosis | Bilateral renal hypodysplasia, CKD 2 | NA | NA | NA | No abnormal | c.76dupG, p.Val26Glyfs*28(het; sibling, het) | Frameshift | CI951965 | None | P | Affected siblings | Â |
C12 | M | 1 d | Unknown | CAKUT | Bilateral renal hypodysplasia | NA | NA | NA | No abnormal | c.81-103delinsC, p.Val28Thrfs*3 (de novo) | Frameshift | NA | None | P | De novo | Â |
C14 | M | 2 yrs | Unknown | CAKUT | Bilateral renal hypodysplasia, CKD 3 | Bilateral renal hypodysplasia | NA | NA | No abnormal | c.143delG, p.Gly48Valfs*34 (de novo) | Frameshift | NA | None | P | De novo | Â |
367 | F | 23yrs | 25 yrs | Nephrosis | CKD5 of unknown etiology | NA | NA | Normal | High-frequency hearing loss | c.148C > T, p.Arg50Trp (het; m,wt; sibling2, het; sibling3,het) | Missense | NA | None;rs759356936 | LP | Affected siblings | rs759356936 |
368 | F | 34yrs | 37yrs | Nephrosis | CKD5 of unknown etiology | NA | NA | Normal | High-frequency hearing loss | c.148C > T, p.Arg50Trp (het; m,wt; sibling1, het; sibling3,het) | Missense | NA | None;rs759356936 | LP | Affected siblings | rs759356936 |
369 | F | 35yrs | 36yrs | Nephrosis | CKD5 of unknown etiology | NA | NA | Normal | High-frequency hearing loss | c.148C > T, p.Arg50Trp (het; m,wt; sibling1, het; sibling2,het) | Missense | NA | None;rs759356936 | LP | Affected siblings | rs759356936 |
C5 | F | 10 yrs | 10 yrs | RCS | Bilateral renal hypodysplasia, bilateral VUR, CKD 5, left double ureters | NA | Bilateral VUR grade II | Bilateral retinal atrophy/dysplasia | Development dysplasia of right hip | c.219C > G, p.Try73* (het; p,het; m,wt) | Nonsense | CM122226 | None | P | paternal |  |
C13 | F | Prenatal | Unknown | RCS | Bilateral renal hypodysplasia, CKD 3 | NA | NA | Unilateral optic disc coloboma | No abnormal | c.221_226dupAGACCG, p.Glu74_Thr75dup (de novo) | Insertion | CI983182 | None | P | De novo | Â |
C29 | F | 10 yrs | 12 yrs | CAKUT | Bilateral renal hypodysplasia, CKD 5 | NA | NA | NA | No abnormal | c.221_226dupAGACCG, p.Glu74_Thr75dup (de novo) | Insertion | CI983182 | None | LP | De novo | Â |
C31 | F | 2.8 yrs | 6 yrs | CAKUT | Bilateral renal hypodysplasia, CKD 5 | NA | Left VUR grade III | Intermittent strabismus | No abnormal | c.685C > T, p.Arg229*168 (NA #) | Nonsense | NA | None | P | NA |  |
902 | M | 22yrs | Unknown | CAKUT | Bilateral renal hypodysplasia, CKD 5 | NA |  | NA | No abnormal | c.239C > A p.Pro80Gln (de novo) | Missense | NA | None | LP | De novo | NA |
C11 | M | 14yrs | Unknown | CAKUT | Unilateral renal hypodysplasia, CKD 3 | NA | NA | NA | No abnormal | c.445C > T, p.Pro149Ser (de novo) | Missense | NA | 5/18464;rs1401507282 | LP | De novo | rs1401507282 |
C15 | M | 8 yrs | 8 yrs | RCS | Bilateral renal hypodysplasia, VUR, CKD 5 | NA | Â | Macular pucker | Seizure | c.451delC p.Pro151Argfs*6 | Frameshift | NA | None | P | De novo | Â |
C19 | M | 3 m | Unknown | CAKUT | Unilateral VUR |  | Left VUR grade III/IV | NA | No abnormal | c.529G > A, p.Ala177Thr (het; p,het; m,wt) | Missense | NA | 0/19952/0.000;rs749684940 | LP | Paternal | rs749684940 |
C10 | M | 11 yrs | 11 yrs | CAKUT | Bilateral renal hypodysplasia, CKD 5 | NA | NA | Normal | Seizure | c.543delA, p.Pro181Profs*92 (de novo) | Frameshift | NA | None | P | De novo | Â |
C32 | M | 2.2 yrs | 6 yrs | RCS | Bilateral renal hypodysplasia, CKD 5 | NA | VUR I | Left optic disk dysplasia | Hernia | c.627delG, p.Glu209Glufs*65 (de novo) | Frameshift | P | None | P | De novo | Â |
C33 | F | 9 yrs | 10 yrs | CAKUT | Bilateral renal hypodysplasia, CKD 5 | NA | VUR left I | Normal | No abnormal | c.213-2A > G (de novo) | Splice site | NA | None | P | De novo |  |
PD 273 | F | 11 yrs | 11 yrs | RCS | Bilateral renal hypodysplasia, CKD 5 | NA | Normal | Left optic disk dysplasia | No abnormal | c.836_c.840del AAGTC,p.Glu279Glufs*11 (de novo) | Frameshift | De novo | None | P | De novo | Â |
C17 | F | 5 yrs | 13 yrs | Nephrosis | Bilateral renal hypodysplasia, CKD 5 | FSGS | Normal | NA | Unilateral oblique inguinal hernia | c.906C > A, p.Tyr302*(de novo) | Nonsense | NA | ND | P | De novo |  |
C9 | F | 14 yrs | / | Nephrosis | CKD 1, SRNS | Membranous nephropathy (stage I-II) | NA | Normal | No abnormal | c.938C > T, p.Pro313Leu (het; p,het; m,wt) | Missense | NA | ND | LP | paternal | NA |
198 | M | 37 yrs | 48 yrs | Nephrosis | CKD5 of unknown etiology | NA | NA | NA | No abnormal | c.1127A > C, p.Gln376Pro (het; sibling 1,het; sibling 2, wt; son,het) | Missense | NA | 47/19896;rs201021899 | LP | Affected sibling | rs201021899 |
200 | M | 27 yrs | / | Nephrosis | CKD2 of unknown etiology | TIN | NA | NA | No abnormal | c.1127A > C, p.Gln376Pro (het; p,het; m, wt; paternal aunt,het; paternal uncle, wt) | Missense | NA | 47/19896/0.002362;rs201021899 | LP | Maternal | rs201021899 |
201 | F | 35 yrs | / | Nephrosis | CKD5 of unknown etiology | FSGS | NA | NA | No abnormal | c.1127A > C, p.Gln376Pro(het; sibling 3,het; sibling 2, wt; son,het) | Missense | NA | 47/19896/0.002362;rs201021899 | LP | Affected sibling | rs201021899 |