Table 2.
Summary of the patients carrying WDR19 mutations in previous studies
| Patient | Ethnicity | Gender | Zygosity | Mutation 1 | Protein/RNA change 1 | Mutation 2 | Protein/RNA change 2 | Diagnostics | PMID | Consanguinity |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Norwegian | Female | CHet | c.2129T>C | p.Leu710Ser | c.3307C>T | p.Arg1103* | Sensenbrenner | 22,019,273 | No |
| 2 | Norwegian | Male | CHet | c.2129T>C | p.Leu710Ser | c.3307C>T | p.Arg1103* | Sensenbrenner | 22,019,273 | No |
| 3 | Dutch | Female | Hom | c.20T>C | p.Leu7Pro | c.20T>C | p.Leu7Pro | Jeune | 22,019,273 | No |
| 4 | Moroccan | Male | CHet | c.1034T>G | p.Val345Gly | c.3068dupA | p.Tyr1023* | NPHP | 22,019,273 | No |
| 5, 6, 7 | Moroccan | Female | CHet | c.1034T>G | p.Val345Gly | c.3068dupA | p.Tyr1023* | NPHP | 22,019,273 | No |
| 8 | Korean | Male | CHet | c.3533G>A | p.Arg1178Gln | c.3703G>A | p.Glu1235Lys | NPHP and Caroli | 25,726,036 | No |
| 9, 10 | Korean | Female | CHet | c.3533G>A | p.Arg1178Gln | c.3703G>A | p.Glu1235Lys | NPHP and Caroli | 25,726,036 | No |
| 11 | Korean | Male | CHet | c.3533G>A | p.Arg1178Gln | c.1483G>T | p.Gly495Cys | NPHP and Caroli | 25,726,036 | No |
| 12 | Korean | Male | CHet | c.3533G>A | p.Arg1178Gln | c.1853 T>C | p.Leu618Pro | NPHP and Caroli | 25,726,036 | No |
| 13 | Korean | Female | Hom | c.3533G>A | p.Arg1178Gln | c.3533G>A | p.Arg1178Gln | NPHP and Caroli | 25,726,036 | No |
| 14 | Philippine | Female | Hom | c.1483G>C | p.Gly495Arg | c.1483G>C | p.Gly495Arg | Multiple malformations | 24,504,730 | No |
| 15 | French-Canadian | Male | Hom | c.2129T>C | p.Leu710Ser | c.2129T>C | p.Leu710Ser | RP | 23,683,095 | Yes |
| 16 | French-Canadian | Female | Hom | c.2129T>C | p.Leu710Ser | c.2129T>C | p.Leu710Ser | RP | 23,683,095 | No |
| 17 | Canadian | NA | Het | c.641dupT | p.Leu214PhefsX5 | c.1477G>C | p.Asp493His | NPHP and RP | 23,683,095 | No |
| 18 | Canadian | NA | Het | c.203T>A | p.Val68Asp | c.407-2A>G | Splice site | NPHP and RP | 23,683,095 | No |
| 19 | Canadian | NA | Het | c.88G>C | p.Ala30Pro | WT | WT | NPHP and RP | 23,683,095 | No |
| 20 | Canadian | NA | Het | c.326G>A | p.Gly109Glu | WT | WT | NPHP and RP | 23,683,095 | No |
| 21 | Canadian | NA | Het | c.781dupA | p.Thr261AsnfsX13 | WT | WT | NPHP and RP | 23,683,095 | No |
| 22 | Japanese | Female | CHet | c.953delA | p.Asn319Ilefs*16 | c.3533G>A | p.Arg1178Gln | NPHP | 28,621,010 | No |
| 23 | Japanese | Female | CHet | c.2645+1G>T | Splice site | c.3533G>A | p.Arg1179Gln | Polycystic kidney disease | 28,621,010 | No |
CHet, compound heterozygous; Het, heterozygous; Hom, homozygous. WT, wide type; NPHP, nephronophthisis; Caroli, Caroli syndrome; Sensenbrenner, Sensenbrenner syndrome, Jeune, Jeune syndrome; RP, retinitis pigment; NA, not available