. Author manuscript; available in PMC: 2019 Jan 1.

Published in final edited form as: Kidney Int. 2017 Oct 12;93(1):204–213. doi: 10.1016/j.kint.2017.06.025

Table 1. Monogenic causative mutations of 8 recessive genes detected in 17 individuals from 12 families with NL/NC.

Mutated genes and related diseases (OMIM nomenclature) are shown in sub headers to the table.

Family Individual	Nucleotide change	Amino acid change	State	PPh2	Evolutionary conservation	Ref.	Ethnicity (Sex)	Age of Onset	Family history	Consangu nity	Phenotype prior to WES

AGXT, Primary hyperoxaluria type I

B1468 21	c.1079G>C	p.Arg360Pro	het	1	C. elegans	Novel^a	Egyptian (M)	6	Y (1 sibling affected)	N	NL/NC, CKD, hyperoxaluria NC, microscopic hematuria
B1468 21	c.121G>A	p.Gly41Arg	het	0.99	D. melanogaster	Y²⁴	Egyptian (M)	6
B1468 24	c.1079G>C	p.Arg360Pro	het	1	C. elegans	Novel^a	Egyptian (F)	2.5
B1468 24	c.121G>A	p.Gly41Arg	het	0.99	D. melanogaster	Y²⁴	Egyptian (F)	2.5
B1230_21	c.731T>C	p.Ile244Thr	hom	0.4	M. musculus	Y²⁵	Egyptian (M)	1	Y	Y	NL, CKD, hyperoxaluria
B1646_21	c.481G>A	p.Gly161Ser	hom	0.99	C. elegans	Y²⁶	Middle Eastern (M)	3	Y (cousin)	Y	Recurrent bilateral NL, CKD, hyperoxaluria

ATP6V1B1, Renal Tubular acidosis with deafness

B1121	c.242T>C	p.Leu81Pro	hom	1	C. elegans	Y²⁷	European (M)	1.7	N	N	NC, RTA, neurodevelopmental delay

CLDN16, Hypomagnesemia, familial with hypercalciuria and nephrocalcinosis

B1645_21	c.695T>G	p.Phe232Cys	hom	0.99	D. rerio		Middle Eastern (F)	4	Y (1 sibling affected)	Y	Bilateral NL, hypomagnesemia

CLDN19, Hypomagnesemia/renal/ophthalmological abnormalities

A4283_21	c.535G>A	p.Gly179Ser	hom	0.99	D. rerio	Novel^a	South Asian (F)	11	Y (2 siblings affected)	Y	NC, CKD
A4283_22	c.535G>A	p.Gly179Ser	hom	0.99	D. rerio	Novel^a	South Asian (M)	5			NC, CKD
A4283_23	c.535G>A	p.Gly179Ser	hom	0.99	D. rerio	Novel^a	South Asian (M)	4			NC, CKD

GRHPR, Primary hyperoxaluria type II

B35 21	c.103del	p.Asp35Thrfs*11	het	NA	NA	Y²⁸	American (M)	0.08	Y (1 sibling affected)	N	NL/NC, hyperoxaluria, hypercalciuria
B35 21	c.404+5G>A	Splice site	het	NA	NA	Y²⁹	American (M)
B35_22	c.103del	p.Asp35Thrfs*11	het	NA	NA	Y²⁸		3
B35_22	c.404+5G>A	Splice site	het	NA	NA	Y²⁹					NL/NC, hyperoxaluria.

SLC3A1, Cystinuria, type A

B1648_21	c.592delG	p.Ala198fs	hom	NA	NA	Y³⁰	Middle Eastern (M)	3	N	N	NL, 100% cysteine stone on analysis

SLC12A1, Bartter syndrome type 2

B917_21	c.769G>A	p.Gly257Ser	het	1	C. elegans	Y³¹	Caucasian (M)	1	N	N	NL/NC, polyuria, polydipsia, hypercalciuria
B917_21	c. 1424G>A	p.Cys475Tyr	het	0.99	D. melanogaster	Novel^a	Caucasian (M)	1	N	N	NL/NC, polyuria, polydipsia, hypercalciuria
B1508_21	c.1157delT	p.Ile386fs	hom	NA	NA	Novel^a	European (F)	0.8	Y (1 sibling affected)	Y	NC, hypercalciuria, failure to thrive, metabolic derangements NC, hypercalciuria, failure to thrive, metabolic derangements
B1508_22	c.1157delT	p.Ile386fs	hom	NA	NA	Novel^a	European (M)	1.2	Y (1 sibling affected)	Y

SLC34A1, Infantile hypercalcemia/hypophosphatemia/nephrolithiasis

B1437_21	c. 644+1 G>A	Splice site	het	NA	NA	Y⁶	Egyptian (M)	3	Y-(relatives)	N	NC, hypercalciuria
B1437_21	c.1204G>C	p.Gly402Arg	het	1	D. rerio	Novel^a	Egyptian (M)	3	Y-(relatives)	N	NC, hypercalciuria
B1602_21	c.1724C>T	p.Thr575Ile	hom	.61	D. melanogaster	Novel^a	Caucasian (M)	0.2	Y	Y	NC, hypercalcemia

AGXT, Alanine-glyoxalate aminotransferase; ATP6V1B1, ATPase, H+ transporting, lysosomal, 56/58-KD, V1 Subunit B, Isoform 1; BS1, Bartter syndrome type 1; CKD, chronic kidney disease; CLDN16, claudin16; CLDN19, claudin19; DRTAD, distal renal tubular acidosis with progressive deafness; F, female; GRHPR Glyoxalate Reductase/hydroxypyruvate reducatse; het, heterozygous; hom, homozygous; hx, history; M, male; N, No; NA, not applicable; NC, nephrocalcinosis; NL, nephrolithiasis; Novel, mutation detected for the first time in this study; PPh2, PolyPhen-2; RTA, renal tubular acidosis; SLC3A1, solute carrier family 3; SLC12A1, Solute carrier family 12; SLC34A1, Solute carrier family 34; Y, Yes.

Different mutations at this position are reported.