Table 1 PKD2 variants in 21 ADPKD2 patients
Patient number | Family ID | Mutation (cDNA) | Protein change | TRPP2 expression (ADPKD2/controls) | Dialysis (age) | Hypertension | Extra-renal manifestations | Pathogenicity of PKD2 mutation |
|---|---|---|---|---|---|---|---|---|
90 | PKD2MO65 | 8293C > T and 10043G > A in PKD1; IVS4 + 1G > A in PKD2 | In PC1: Arg2765Cys and Arg3348Gln. In TRPP2: Ala365fs | 0.74 | no | no | none | definitely pathogenic |
91 | PKD2MO50 | 2614C > T | Arg872X | 0.55 | no | yes | Pancreatic and liver cysts | definitely pathogenic |
92 | PKD2MO50 | 2614C > T | Arg872X | 0.78 | no | yes | mitral prolapse | definitely pathogenic |
93 | PKD2MO50 | 2614C > T | Arg872X | 0.31 | yes (72) | yes | none | definitely pathogenic |
94 | PKD2MO50 | 2614C > T | Arg872X | 0.7 | no | no | none | definitely pathogenic |
95 | PKD2MO87 | ivs3 + 1G > T | Phe282fs | 0.86 | yes (59) | yes | polycystic liver, diverticulosis of colon | definitely pathogenic |
96 | PKD2MO87 | ivs3 + 1G > T | Phe282fs | 0.43 | yes (50) | yes | polycystic liver | definitely pathogenic |
97 | PKD2MO87 | ivs3 + 1G > T | Phe282fs | 0.51 | no | yes | none | definitely pathogenic |
98 | PKD2MO87 | ivs3 + 1G > T | Phe282fs | NA | yes (62) | yes | none | definitely pathogenic |
99 | PKD2MO87 | ivs3 + 1G > T | Phe282fs | NA | yes (60) | yes | polycystic liver | definitely pathogenic |
100 | PKD2MO21 | ivs5 + 5G > A, ivs9 2020-2089_86del | unknown | NA | no | yes | polycystic liver | unknown |
101 | PKD2MO21 | ivs5 + 5G > A, ivs9 2020-2089_86del | unknown | NA | no | yes | none | unknown |
102 | PKD2MO21 | ivs5 + 5G > A, ivs9 2020-2089_86del | unknown | NA | no | yes | none | unknown |
103 | PKD2MO29 | 1158 T > A | Tyr386X | 0.39 | no | no | polycystic liver | definitely pathogenic |
104 | PKD2FE15 | 1158 T > A | Tyr386X | 0.47 | yes (67) | yes | none | definitely pathogenic |
105 | PKD2FE15 | 1158 T > A | Tyr386X | 0.31 | no | yes | none | definitely pathogenic |
106 | PKD2FE15 | 1158 T > A | Tyr386X | 0.55 | yes (55) | no | cerebral aneurism | definitely pathogenic |
107 | PKD2FE15 | 1158 T > A | Tyr386X | 0.39 | yes (69) | no | none | definitely pathogenic |
108 | PKD2FE5 | 858delC | Ser286fs30X | 0.27 | yes (82) | no | myocardiosclerosis | definitely pathogenic |
109 | PKD2FE5 | 858delC | Ser286fs30X | 0.35 | yes (73) | no | obstructive vascular disease | definitely pathogenic |
110 | PKD2FE5 | 858delC | Ser286fs30X | 0.39 | yes (66) | no | polycystic liver, myocardiosclerosis and cerebral ictus | definitely pathogenic |