Table 1.

Four different heterozygous PAX2 mutations detected in 4 different families with SRNS/FSGS

Family -Individual	Ancestry	Nucleotide alteration	Alteration in coding sequencea	Zygosity	Continuous AA sequence Conservation	SIFT/ PP2	Presenting symptoms (Age)	Renal Histology	eGFR at presentation /ESRD age	Extra-renal phenotype
AN10 -21 (index family)	Arab	c.69–70InsG b	p.Val26Glyfs*28	Het	Truncating	Deleterious/ 1 (reported)	Elevated creatinine and proteinuria (2y)	FSGS	ESRD at age 4y	Coloboma, Cardiomyopathy, microcephaly
A4041 -11	Egypt	c.254G>T	p.Gly85Val	Het	Danio rerio	Deleterious/ 1 (novel)	Proteinuria and elevated Creatinine	n/a	ESRD at age 39y	-
A4041 -23	Egypt	c.254G>T	p.Gly85Val	Het	Danio rerio	Deleterious/ 1 (novel)	Proteinuria and elevated Creatinine (16y)	FSGS	63 ml/min/1.73m2	-
A4041 -24	Egypt	c.254G>T	p.Gly85Val	Het	Danio rerio	Deleterious/ 1 (novel)	Edema, proteinuria and elevated Creatinine (14y)	FSGS	50 ml/min/1.73m2	-
A5089 -11	Europe	c.862–1G>A	Splice mutation	Het	Splice	Obligatory splice b (novel)	Proteinuria and normal Creatinine	n/a	n/a	-
A5089 -21	Europe	c.862–1G>A c	Splice mutation	Het	Splice	Obligatory splice (novel)	Edema, proteinuria and elevated Creatinine (20)	FSGS	ESRD at age 27	-
A5281	Europe	c.275C>T	p.Thr92Met	Het	Danio rerio	Deleterious/ 1 (novel)	HTN found on screening (18)	FSGS	n/a d	Cryptorchidism

^aAll mutations had a PolyPhen2 (PP2) and SIFT score of functional ‘deleteriousness’ (http://genetics.bwh.harvard.edu/pph2; http://sift.jcvi.org/ )

^bThis mutation has been previously reported as disease causing.

^cThis mutation is predicted to change conserved donor site and to be deleterious using 3 different in silico splice prediction software (MaxEnt, NNSPLICE and HSF).

^dPatients’ mother and maternal grandfather went to ESRD at age 50y and 70 y respectively

ESRD, end stage renal disease; FSGS, focal segmental glomerusclerosis; Het, heterozygous; HTN, hypertension; n/a, not available; pt. patient.