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Table 1 Clinical features and genotypes of the individuals with PAX2-related disorder in the study

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

 

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

 

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

 

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

 

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

 

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

 

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

 

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

 

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

 

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

 

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

 

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

 

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

 

Macular pucker

Seizure

c.451delC p.Pro151Argfs*6

Frameshift

NA

None

P

De novo

 

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

 

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

 

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

 

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

  1. Nucleotide and amino acid sequence changes are reported using the following National Center for Biotechnology Information RefSeq accession numbers (NM_003987 and NP_003978)
  2. CAKUT, congenital anomalies of the kidney and urinary trac; CKD, chronic kidney disease; ESRD, end stage renal disease; FSGS, focal segmental glomerulosclerosis; m, maternal; N.A., not available; p., paternal; RCS, renal coloboma syndrome; RHD, renal hypodysplasia; VUR, vesicoureteral reflux, yrs, years old