Table 3 Clinical characteristics of patients/probands with identified likely pathogenic mutation
From: New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease
Patient/Proband | Likely pathogenic sequence changes | Gender F/M | Age of ESRD (years) Creatinine (μmol/l) | HT Y/N |
|---|---|---|---|---|
HD 53 | p.Q3488X | F | 48 | Y |
HD 15 | Splice (c.10821+1G>C) and p.C3694R | F | 45 | Y |
Fam.340 | p.L3617P | F | 52 y- creat. 350 | N |
Fam.173 | p.S3693L | F | 55 | Y |
Fam.329 | p.R3753Q | F | 58 y- creat. 230 | N |
HD 2 | p.Y3781_D3782del | M | 42 | Y |
HD 12 | p.D3782EfsX46 | M | 45 | Y |
HD 23 | p.W3806X | F | 42 | Y |
HD 41 | p.A3875PfsX62 | F | 44 | Y |
Fam. 256 | p.E3918X | F | 50 | N |
HD 10 | p.Q4011X | F | 48 | Y |
Fam. 323 | p.L4019X | M | 50 y- creat. 104 | Y |
Fam. 281 | p.R4021X | F | 50 | Y |
HD 31 | p.R4021X | M | 36 | Y |
Fam.387 | p.Q4042X | M | 32 y- creat. 154 | Y |
Fam. 237 | p.Q4216H | F | 42 | Y |
HD 38 | p.R4228P | M | 47 | Y |
HD 1 | p.Q4231X | F | 50 | Y |
HD 40 | p.Q4242X | F | 50 | Y |