Table 2.

Summary of the clinical presentation and mutation type of previously reported cohort.

	Yang et al. (15)	Rossanti et al. (3)	Deng et al. (14)	Total
Case numbers	32	38	10	80
Median age at initial presentation (range)	10 years (prenatal ~ 48 years)	5.5 years (1 month ~ 54 years)	6.4 years (1 day ~ 14.8 years)	8.2 years (prenatal ~ 54 years)
Age distribution
<1 years	7	3	1	11 (15%)
1–9.9 years	14	10	7	31 (41%)
10–19.9 years	8	9	2	19 (12%)
>20 years	7	7	0	14 (19%)
Gender (male/female)	17/15	20/18	4/6	41/39
Renal presentation
Renal hypodysplasia	21	12	10	43 (54%)
Renal insufficiency of unknown cause	9	22	NA	31 (44%)
Cystic kidney disease	4	5	5	14 (18%)
Proteinuria	NA	NA	10	10
Focal segmental glomerulosclerosis	3	3	2	8
Vesicoureteral reflux	4	2	NA	6 (8.6%)
Other	2	2	NA	4
Median age of progression to ESRD (range)	11 years (5–48 years)	7 years (2–11 years)	11.2 years (9.8–16.4 years)	10 years (2–48 years)
Ophthalmological presentation
Optic disc coloboma or dysplasia	6	21	2	29 (36%)
Other	6	4	5	15 (19%)
Normal	8	12	2	22 (28%)
Non-renal, non-ophthalmological presentation
Hearing loss	3	NA	NA	3
Short stature	0	3	1	4 (5%)
Neurodevelopment
Developmental delay	0	2	1	3 (4%)
Autism	0	2	0	2 (3%)
Seizure	2	0	0	2 (3%)
Facial dysmorphism	0	3	0	3 (4%)
Congenital heart disease	0	2	1	3 (4%)
Congenital cystic adenomatoid malformation	0	2	0	2 (3%)
Inguinal hernia	4	0	0	4 (5%)
Other	β-thalassemia, development dysplasia of hip	Retractile testis, polycystic ovarian disease, teratoma, scoliosis	Microcephaly, metatarsal microsomia, teratoma, gout
Type of mutation
Frameshift	15	21	4	40 (50%)
Non-sense	3	7	1	11 (14%)
Missense	10	7	4	21 (26%)
Splice site	2	2	0	4 (5%)
Insertion	2	0	0	2 (3%)
Deletion	0	1	0	1 (1%)