Table 1.
Clinical data and CTNS variantsa of the patients
| Patient | Age (years) | Sex | Age at diagnosis (months) | Consanguinity | Sibling disease | Renal status | RRT | CTNS variant allele 1 | CTNS variant allele 2 | Other |
|---|---|---|---|---|---|---|---|---|---|---|
| TR1 | 12 | M | 15 | No | No | Proteinuria | c.451A>G;p.R151G | c.1015 G>A;p.G339R | rs222753 (h) | |
| TR2 | 11 | M | 9 | Yes | No | Proteinuria | c.18_21delGACT;p.T7X7 | c.18_21delGACT; p.T7FX7 | rs222753 (H) | |
| TR3 | 16 | M | 12 | No | No | ESRD at age 9 | CAPD, HDTx, HD | c.62-1083_c.551del10217 | c.62-1083_c.551del10217 | rs161400 (H) |
| TR4 | 21.5 | M | 12 | Yes | Yes | ESRD at age 9.5 | CAPD, HD | c.141-22a>g | c.681 G>A; p.E227E | rs1800528 (h), rs222753(h) |
| TR5 | 17.5 | M | 1 | Yes | Sib of TR4 | RI | c.141-22a>g | c.681 G>A; p.E227E | rs1800528 (h), rs222753(h) | |
| TR6 | 15.5 | F | 12 | Yes | No | Proteinuria | c.518A>G, p.Y173C | c.518A>G, p.Y173C | ||
| TR7 | 25.5 | M | 105 | Yes | No | RI | c.451A>G; p.R151G | c.451A>G; p.R151G | ||
| TR36 | 14 | F | 14 | No | No | ESRD at age 6 | CAPD, HD, TX | c.681 G>A; p.E227E | c.1015 G>A; p.G339R | rs222753 (h) |
| TR37 | 29 | F | 106 | Yes | No | ESRD at age 16 | CAPD | c.18_21delGACT;p.T7X7 | c.470 G>A; p.G157D | rs222753 (h) |
| TR121 | 20.5 | M | 13 | No | Only child | ESRD at age 11 | CAPD, HD | c.140+1 G>T | c.140+1 G>T | rs76153698 (H) |
| TR11 | 13 | F | 18 | Yes | Yes | ESRD at age 9 | Preemptive Tx | c.681 G>A; p.E227E | c.681 G>A; p.E227E | rs222753 (H) |
| TR12 | 7 | F | 24 | Yes | Sib of TR 12 | RI | c.681 G>A; p.E227E | c.681 G>A; p.E227E | rs222753 (H) |
CAPD continuous ambulatory peritoneal dialysis, ESRD end-stage renal disease, HD hemodialysis, RI renal insufficiency, Tx transplantation, H homozygote, h heterozygote, RRT renal replacement therapy
a
Position based on the GenBank NM_004937.2 sequence (HGVS nomenclature). The “rs” numbers correspond to dbSNP (http://www.ncbi.nlm.nih.gov/snp/) accession numbers