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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