Table 1.

Clinical Features of the Affected Individuals with PTPRO Mutations

Family and Individual	Consang uinity	Nucleotide Alterationa	Segregation	Age at Onset (years)	Initial Up/Uc (mg/mg)	Serum Albumin at Onset (g dL−1)	Age at ESKD (years)	Histology	Last Up/Uc (mg/mg)	Last serum albumin (g dL−1)
A
IV-1	yes	c.2627+1G>T	H, M, P	7	9.9	2.5	none at 11 years	ND	3.8	4
IV-2	yes	c.2627+1G>T	H, M, P	5	16.2	1.9	none at 7 years	FSGS	1.18	3.6
B
IV-1	yes	c.2745+1G>A	H, M, P	14	14.1	2.2	18 (transplanted)	ND	0.12	4
IV-2	yes	c.2745+1G>A	H, M, P	11	7	4	none at 15 years	MCD	3.2	4.2
IV-3	yes	c.2745+1G>A	H, M, P	9	6.1	4	none at 12 years	ND	2.9	3.6
IV-4	yes	WT		healthy	0.1

The following abbreviations are used: WT, wild-type; H, Homozygous in affected individual; M, heterozygous mutation identified in mother; P, heterozygous mutation identified in father; Up/Uc: urinary protein/creatinine ratio; FSGS: Focal segmental glomerulosclerosis; MCD; minimal change disease; ND: not done. ESKD: End-stage kidney disease.

^aThe nucleotide positions are numbered according to variant 2 of PTPRO (NM_002848.2). All mutations were absent in 180 healthy Turkish children.