Table 1. Summarizing published studies performing entire screening for PKD1/PKD2 mutation detection.
| Publish year | Ethnicity | No. of patients/family | Age | Gene detected | Sequencing Method | Mutation detection rate (no. patients/familial) | Mutation recurrence rate | Multiple mutation rate | PKD1 | PKD2 | Definite mutation rate in patient % | Reference |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Caucasian | ||||||||||||
| 2002 (Burtey et al.) | French | 9 | — | PKD1 | RT-PCR, DS | 66.7% (6) | 0 | 0 | — | — | 12 | |
| 2002 (Rossetti et al.) | American | 45 | — | PKD1 PKD2 | DHPLC, DS | 77.8% (35) | 2.9 (1/34) | 0 | 91.4 (32/35) | 8.6 (3/35) | 64.4 (29/45) | 30 |
| 2005 (Peltola et al.) | Finnish | 17 | 43 ± 2 | PKD1 PKD2 | LR-PCR, DS, SSCP | 100% (17) | 0 | 0 | 94.1 (16/17) | 5.9 (1/17) | 64.7 | 13 |
| 2007 (Rossetti et al.) | American | 202 | 15-46 | PKD1 PKD2 | DHPLC, LR-PCR, DS | 89.1% (180) | 30.0 | 85 (153/180) | 15 (27/180) | 62.9 (127/202) | 9 | |
| 2007 (Garcia-Gonzalez et al.) | Canadian | 82 | 46.5 (1-73) | PKD1 PKD2 | LR-PCR, DS | 78.0% (64) | 0 | 0 | 79.7 (51/64) | 20.3 (13/64) | 41.5 | 14 |
| 2008 (Tan et al.) | American | 22 | — | PKD1 PKD2 | LR-PCR, SURVEYOR Nuclease, WAVE Nucleic Acid High Sensitivity Fragment Analysis System | 86.3% (19) | 0 | 0 | 84.4 | 15.6 | 63.6 (14/22) | 15 |
| 2011 (Bataille et al.) | French | 37 | 51 ± 11 | PKD1 PKD2 | LR-PCR, RT-PCR, HRM, DS | 75.7% (28) | 0 | 0 | 89.3 (25/28) | 10.7 (3/28) | 35.1 | 16 |
| 2011 (Hoefele et al.) | German | 93 | — | PKD1 PKD2 | LR-PCR, DS | 64.5% (60) | 0 | 0 | 86.7 | 13.3 | 17 | |
| 2012 (Rossetti et al.) | American | 183 | — | PKD1 PKD2 | Next-generation sequencing | 62.8% (115) | 12.6 (23/183) | 82.6 | 17.4 | 36.1 (66/183) | 18 | |
| 2012 (Audrezet et al.) | French | 700 | — | PKD1 PKD2 | DS, QFM-PCR, array-CHG | 89.9% (629) | 20.8 (92/442) | 83.8 (527/629) | 16.2 ( | 66.6 | 10 | |
| 2013 (Neumann et al.) | South-western German | 277 | — | PKD1 PKD2 | 64.6% (179) | 16.7 (21/126) | 0 | 81.0 (145/179) | 19.0 (34/179) | 45.1 (125/277) | 19 | |
| 2014 (Trujillano et al.) | Spanish | 48 | — | PKD1 PKD2 | Targeted NGS | 93.8 (45/48) | 0 | 2.1 (1/48) | 88.9 (40/45) | 11.1 (5/45) | 64.6 (31/48) | 20 |
| 2014 (Obeidova et al.) | Czech | 56 | — | PKD1 PKD2 | LR-PCR, HRM analysis, MLPA | 71.4% (40) | 5.1 (2/39) | 1.8 (1/56) | 95.0 (38/40) | 5.0 (2/40) | ~46.4 (26/56) | 21 |
| Asian | ||||||||||||
| 2000 (PHAKDEEKITCHAROEN et al.) | Thai and Korean | 47 (41 Thai& 6 Korean) | PKD1 | LR-PCR, SSCA | 34.0 (16/47) | 0 | 0 | — | — | 19.1 (9/47) | 22 | |
| 2002 (Inoue et al.) | Japanese | 8 unrelated | PKD1 | LR-PCR, DS | 87.5%; \ | 0 | 12.5 (1/8) | — | — | 75 (6/8) | 23 | |
| 2004 (Zhang et al.) | Chinese | 24 | PKD1 PKD2 | LR-PCR, DS, SSCP | 70.8% (17) | 0 | 0 | 70.6 (12/17) | 29.4 (5/17) | 33.3 (8/24) | 24 | |
| 2011 (Yu et al.) | Chinese | 65 | PKD1 PKD2 | DHPLC, LR-PCR, DS | 52.3% (34) | 13.8 (4/29) | 0 | 88.2 (30/34) | 11.8 (4/34) | 43.1 (28/65) | 25 | |
| 2013 (Chang et al.) | Chinese-Taiwanese | 46 | PKD1 PKD2 | LR-PCR, DS, RT-QPCR, MLPA | 65.2% (30) | 8.8 (3/34) | 6.5 (3/46) | 76.7 (23/30) | 23.3 (7/30) | 37.0 (17/46) | 26 | |
| 2014 (Choi et al.) | Korean | 20 | PKD1 PKD2 | LR-PCR, DS, MLPA | 90% (18) | 0 | 0 | 83.3 (15/18) | 16.7 (3/18) | 65.0 (13/20) | 28 | |
| 2014 (Yang et al.) | Chinese | 7 | PKD1 PKD2 | Targeted NSG | 85.7 (6/7) | 0 | 0 | 57.1 (4/7) | 8 | |||
| 2015 (Kurashige et al.) | Japanese | 161 | PKD1 PKD2 | LR-PCR, DS | 83.9% (135) | 13.0 (14/108) | 6.1 (9/148) | 71.9 (97/135) | 28.1 (38/135) | 52.2 (84/135) | 27 | |
| 2015 | Chinese | 148 | PKD1 PKD2 | Target NSG | 85.8% | 28.7 (31/108) | 48.0 (71/148) | 92.9 (118/127) 99.2 (126/127) | 0.8 (1/127) 7.1 (9/127) | 27.7 (41/148) | This study | |
Abbreviations: LR-PCR, long range-PCR; SSCA: single-stand conformation analysis; DS, direct sequencing; DHPLC, denaturing high-performance liquid chromatography; SSCP, single-strand conformation polymorphism; HRM: high resolution melt analysis; QFM-PCR, quantitative fluorescent multiplex PCR; aaray-CGH, array-comparative genomic hybridization; NGS, next-generation sequencing; DP, definitely pathogenic; HLP, highly likely pathogenic; LP, likely pathogenic.