Table 2 Review of mutations reported in the FAN1 gene
From: New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene
| References | Ethnic origin | Nucleotide alteration | Deduced protein change | Exon/intron (state) | Parental consan-guinity |
|---|---|---|---|---|---|
| Zhou et al. [4] | French |
c.1234 + 2T>A c.2036_7delGA |
Splice site p.Arg679Thrfs*5 |
2 (het) 7 (het) | No |
| Zhou et al. [4] | French |
c.1234 + 2T>A c.2245C>T |
Splice site p.Arg749* |
2 (het) 9 (het) | No |
| Zhou et al. [4] | French |
c.1375 + 1G>A c.2616delA |
Splice site p.Asp873Thrfs*17 |
3 (het) 12 (het) | No |
| Zhou et al. [4] | German |
c.1606C>T c.2786A>C |
p.Arg536* p.Gln929Pro |
5 (het) 12 (het) | No |
| Zhou et al. [4] | German |
c.1606C>T c.2878G>A |
p.Arg536* p.Asp960Asn |
5 (het) 13 (het) | No |
| Zhou et al. [4] |
New Zealand Maori | c.2120G>A | p.Trp707* | 8 (hom) | distant? |
| Zhou et al. [4] | Spanish | c.2616delA | p.Asp873Thrfs*17 | 12 (hom) | No |
| Zhou et al. [4] | Swiss |
c.2611T>C c.2878G>A |
p.Cys871Arg p.Asp960Asn |
12 (het) 13 (het) | No |
| Zhou et al. [4] | USA |
c.2774_5delTT c.2810G>A |
p.Leu925Profs*25 p.Gly937Asp |
12 (het) 13 (het) | No |
| Isnard et al. [3] | French | c.2616delA | p.Asp873Thrfs*17 | 12 (hom) | ND |
| Dash et al. [6] | Bulgarian |
c.1102C>T c.2616delA |
p.Gln368* p.Asp873Thrfs*17 |
2 (het) 12 (het) | ND |
| Koshy et al. [5] | Indian |
c.1356T>G c.1369C>T |
p.Asn452Lys p.Gln457* |
4(het) 4 (het) | ND |
| Present study Family A | Tunisian | c.2616delA | p.Thr872Thrfs*17 | 12 (hom) | Yes |
| Present study Family Z | Tunisian | c.2603delT | p.Leu868Argfs*21 | 12(hom) | Yes |