Table 1 Basic, clinical and genetic characteristics of the ADPKD probands
Code (sex) | Inheritance | Deathsa | Age at diagnosis | Age at ESRD | Affected Gene (Exon/Intron) | Genetic change (protein prediction) | Classification | References |
|---|---|---|---|---|---|---|---|---|
ADPKD-1 (F) | Fam | 3 | 43 yrs | 49 yrs | PKD1 (Ex37) | c.10907_10908delTG (p.Val3636AspfsX85) | Pathogenic | Novel |
ADPKD-2 (F) | Fam | 0 | 24 yrs | 43 yrs | PKD1 (IVS25) | c.9202–2 A > G (p.Pro3067fsX182) | Pathogenic | Athena Diagnosticsb |
ADPKD-3 (M) | Fam | 3 | 37 yrs | 38 yrs | PKD1 (ex24) | c.8887insA (p.Arg2962fsX9) | Pathogenic | Novel |
ADPKD-4 (M) | Fam | 1 | 47 yrs | 49 yrs | Not identified | Not identified | - | - |
ADPKD-5 (M) | Fam | 1 | 35 yrs | 40yrs | PKD1 (Ex 17) | c.7126 C > T (p.Glu2376X) | Pathogenic | Rossetti et al. Kidney Int 2002 [20] |
ADPKD-6 (F) | Fam | 0 | 31 yrs | 46 yrs | PKD1 (Ex 40) | c.11379_11380insG (p.Gly3793fsX22) | Pathogenic | Novel |
ADPKD-7 (M) | Fam | 1 | 29 yrs | 33 yrs | PKD1 (Ex11) | c.2684 C > A (p.Ser895X) | Pathogenic | Novel |
ADPKD-8 (F) | Fam | 3 | 33 yrs | 44 yrs | Not identified | Not identified | - | - |
ADPKD-9 (F) | Fam | 1 | 44 yrs | 51 yrs | PKD1 (Ex29) | c.9750_9754delGGCTG (p.Glu3252AlafsX6) | Pathogenic | Novel |
ADPKD-10 (F) | Fam | 0 | 25 yrs | 48 yrs | PKD1 (Ex 35) | c.10527_10528delGA (p.Glu3509AspfsX115) | Pathogenic | Yu et al. 2011 [21]; Athena Diagnosticsb |
ADPKD-11 (F) | Fam | 0 | 30 yrs | No | PKD2 (Ex 13) | c.2465delA (Hys822LeufsX22) | Pathogenic | Novel |
ADPKD-12 (M) | Fam | 0 | 37 yrs | No | PKD1 (Ex 23) | c.8702 C > T (p.Pro2901Leu) | VUS | Athena Diagnosticsb |
ADPKD-13 (F) | Fam | 1 | 27 yrs | 47 trs | PKD1 (Ex 39) | c.11263 C > T (p.Glu3755X) | Pathogenic | Novel |
ADPKD-14 (F) | Fam | 1 | 23 yrs | 52 yrs | PKD1 (Ex 17) | c.7126 C > T (p.Glu2376X) | Pathogenic | Rossetti et al. 2002 [20] |
ADPKD-15 (M) | Fam | 1 | 40 yrs | 54 yrs | PKD1 (IVS 19) | c. 7703 + 1 G > A (p.Trp2498LeufsX50 | Pathogenic | Audrézet et al. 2012 [22] |
ADPKD-16 (F) | Fam | 0 | 33 yrs | No | PKD1 (Ex 25) | c.9075 G > T (p.Trp3025Cys) | Likely pathogenic | Novel |
ADPKD-17 (F) | Fam | 0 | 25 yrs | No | PKD1 (Ex 40) | c.11379_11380insG (p.Gly3793fsX22) | Pathogenic | Novel |
ADPKD-18 (F) | Fam | 0 | 52 yrs | 52 yrs | PKD1 (Ex 30) | c.10042 C > T (p.Arg3348Trp | Likely pathogenic | Novel |
ADPKD-19 (M) | Fam | 0 | 44 yrs | No | PKD1 (Ex 38) | c.11156 G > A (p.Arg3719Gln) | Likely pathogenic | |
ADPKD-20 (F) | Fam | 0 | 39 yrs | 45 yrs | PKD1 (Ex 38) | c.11137delG (p. Ala3713ProFsX13 | Pathogenic | Novel |
ADPKD-21 (F) | Fam | 2 | 26 yrs | 60 yrs | PKD1 (Ex 46) | p.12460 C > T (p.Arg4154Cys) | Likely pathogenic | Perrichot et al. 1999 [25]; Athena Diagnosticsb |
ADPKD-22 (F) | Fam | 0 | N/A | 54 yrs | PKD1 (Ex 24) | c.8827 G > C (p.Ala2943Pro) | VUS | Novel |
ADPKD-23 (M) | Fam | 0 | 39 yrs | 55 yrs | PKD1 (IVS 22) | c.8162–2 A > G (p.delGly2721_Asp2930) | Pathogenic | Novel |
ADPKD-24 (M) | Fam | 0 | 36 yrs | 42 yrs | PKD1 (IVS 37) | c.11017–10 C > A (p.Arg3672fsX1) | Pathogenic | Perrichot et al. 1999 [25]; Bogdanova et al. 2000 [26]; Garcia-Gonzalez et al., 2007 [27]; Rossetti et al. 2007 [28]; Audrézet et al. 2012 [22]; Athena Diagnosticsb |
ADPKD-25 (F) | Adopted | 0 | 36 yrs | 43 yrs | PKD2 (Ex 13) | c.2465delA (p.Hys822LeufsX22) | Pathogenic | Novel |
ADPKD-26 (M) | Fam | 0 | 35 yrs | 61 yrs | PKD1 (Ex 25) | c.8975 A > C (p.Hys2992Pro) | VUS | Novel |
ADPKD-27 (M) | Fam | 0 | 45 yrs | No | PKD1 (Ex 23) | c.8423 T > A (p.Ile2808Asn) | Likely pathogenic | Novel |
ADPKD-28 (M) | Fam | 1 | 36 yrs | No | PKD1 (Ex 7) | c.1598 A > G (p.Gln1533Arg) | Likely pathogenic | Novel |
ADPKD-29 (M) | Fam | 2 | 55 yrs | No | PKD1 (Ex 11) | c.2221 C > T (p.Pro741Ser) | VUS | Novel |
ADPKD-30 (M) | Fam | 0 | NA | No | PKD2 (Ex 8) | c.1781delC (p.Asp596ThrfsX14) | Pathogenic | Novel |
ADPKD-31 (F) | Fam | 0 | 43 yrs | No | PKD2 (Ex 8) | c.1781delC (p.Asp596ThrfsX14) | Pathogenic | Novel |
ADPKD-32 (M) | Fam | 0 | 36 yrs | 49 yrs | PKD1 (Ex 3) | c.325 G > T (p.Gly109X) | Pathogenic | Novel |
ADPKD-33 (F) | Fam | 0 | 35 yrs | 49 yrs | PKD1 (Ex 27) | c.9404 C > T (p.Thr3135Met) | Likely pathogenic | Bataille et al. 2011 [29]; Athena Diagnosticsb |
ADPKD-34 (M) | Fam | 1 | 56 yrs | 56 yrs | PKD1 (Ex 15) | c.3447delC (p.Pro1150ArgfsX21) | Pathogenic | Novel |
ADPKD-35 (M) | Spo | 0 | 17 yrs | No | PKD1 (Ex 40) | c.11376dupG (pThr3794AspfsX22) | Pathogenic | Novel |
ADPKD-36 (F) | Fam | 0 | 12 yrs | No | PKD1 (Ex 2) | c.287 T > C (p.Leu96Pro) | Likely pathogenic | Athena Diagnosticsb |
ADPKD-37 (F) | Fam | 0 | 35 yrs | No | PKD1 (Ex 16) | c.7061 A > G (p.Gln2354Arg) | Likely pathogenic | Athena Diagnosticsb |
ADPKD-38 (M) | Fam | 0 | N/A | No | PKD1 (Ex 11) | c.2429 A > G (p.Asn810Ser) | VUS | Novel |
ADPKD-39 (M) | Fam | 0 | 35 yrs | No | PKD1 (Ex 4) | c.405 G > C (p.Trp135Cys) | Likely pathogenic | Novel |
ADPKD-40 (M) | Spo | 0 | 34 yrs | No | PKD1 (Ex 15) | c.4475 G > A (p.Arg1492Hys) | VUS | Novel |