Table 1.
Genetic characteristics of each molecular diagnosis
| Molecular diagnosis | Gene | Inheritance (patient n, %) | Truncating variants/ total variants, n (%) | Novel variants/ total variants, n (%) |
|---|---|---|---|---|
| Primary hyperoxaluria | ||||
| Type 1 | AGXT | AR (28, 20%) | 12/27 (44%) | 12/27 (26%) |
| Type 2 | GRHPR | AR (16, 11%) | 4/12 (33%) | 4/12 (33%) |
| Type 3 | HOGA1 | AR (34, 24%) | 9/22 (41%) | 2/22 (9%) |
| Cystinuria | ||||
| Type 1 | SLC3A1 | AD (4, 3%); AR (22, 16%) | 16/33 (49%) | 24/33 (73%) |
| Type 2 | SLC7A9 | AD (9, 6%); AR (10, 7%) | 9/22 (41%) | 13/22 (59%) |
| Calcium oxalate nephrolithiasis | ||||
| Type 1 | SLC26A1 | AR (4, 3%) | 2/7 (29%) | 1/7 (14%) |
| Type 2 with NC | OXGR1 | AD (1, 1%) | 0/1 (0%) | 1/1 (100%) |
| RHUC, type 2 | SLC2A9 | AD (3, 2%) | 0/3 (0%) | 2/3 (67%) |
| dRTA, type 1 | SLC4A1 | AD (3, 2%) | 0/3 (0%) | 1/3 (33%) |
| APRT | APRT | AR (1, 1%) | 1/1 (100%) | 1/1 (100%) |
| ADHH | CASR | AD (1, 1%) | 0/1 (0%) | 0/1 (0%) |
| FHHNC | CLDN16 | AR (1, 1%) | 1/2 (50%) | 1/2 (50%) |
| Bartter syndrome, type 2 | KCNJ1 | AR (1, 1%) | 0/2 (0%) | 2/2 (100%) |
| HCINF, type 2 | SLC34A1 | AR (1, 1%) | 1/1 (100%) | 1/1 (100%) |
| Xanthinuria, type 1 | XDH | AR (1, 1%) | 0/2 (0%) | 0/2 (0%) |
| HHRH | SLC34A3 | AR (1, 1%) | 0/2 (0%) | 1/2 (50%) |
| Total | - | AD (21, 15%); AR (120, 85%) | 55/141 (39%) | 61/141 (43%) |
AD, autosomal dominant; ADHH, autosomal-dominant hypocalcemia with hypercalciuria; APRT, adenine phosphoribosyl transferase deficiency; AR, autosomal recessive; DR, digenic recessive; dRTA, distal renal tubular acidosis; FHHNC, familial hypomagnesemia with hypercalciuria and nephrocalcinosis; HCINF, infantile hypercalcemia; HHRH, hereditary hypophosphatemic rickets with hypercalciuria; OMIM, Online Mendelian Inheritance in Man; RHUC, renal hypouricemia.