Table 1.

Summary of mutations in the CRISP families

Mutation TypePKD1PKD2Total
Definite (MG = A)106 (69.3%)21 (77.8%)127 (70.6%) (62.9%)c
Highly likely (MG = B)34 (22.2%)3 (11.1%)37 (20.6%) (18.3%)c
Likely (MG = C)13 (8.5%)3 (11.1%)16 (8.9%) (7.9%)c
FS deletion/insertion49 (32.0%)7 (25.9%)56 (31.1%)
Nonsense38 (24.8%)9 (33.3%)47 (26.1%)
Splicing16 (10.5%)6 (22.2%)22 (12.2%)
IF deletion/insertion9 (5.9%)2 (7.4%)11 (6.1%)
Missense41 (26.8%)3 (11.1%)44 (24.4%)
Truncatinga107 (69.9%)22 (81.5%)129 (71.7%)
Small IF46 (30.1%)5 (18.5%)51 (28.3%)
Recurrent within studyb7 (16)07 (16)
Recurrentb19 (27)8 (11)27 (38)
Total recurrentb26 (43; 28.1%)8 (11; 40.7%)34 (54; 30.0%)
Novel110 (71.9%)16 (59.3%)126 (70.0%)
Total different mutations13624160
Total mutations153 (85.0%)27 (15.0%)180 (89.1%)c
No mutation defined22 (10.9%)c
  • a Including IF changes of five amino acids or greater and atypical splicing.

  • b Different mutations: Total families in parenthesis.

  • c Percentage of total families in study.