Figure 1
Other gene mutation in patients with Joubert syndrome besides those given in Table 1_
| Gene/Locus | Position mutated | Amino acid change | Reference |
|---|---|---|---|
| TMEM216 | p.R73L; p.R73C | [9, 54] | |
| TMEM237 | pR18 | [36] | |
| TMEM67 | p.Asn242Ser | [37] | |
| TMEM67 | p.Arg110Gly; p.Ser771Pro; p.Arg764*; p.Gly132Ala; p.Ser159Pro; p.Met252Thr; p.Tyr513*; p.Ala145Ser | [15] | |
| KIAA0586 (orthologue of TALPID3) | c.230C>G | p.Ser77* | [44] |
| KIAA0586 (orthologue of TALPID3) | c.230C>G | [44] | |
| TALPID3 | c.428delG | [45] | |
| RPGRIP1L | c.1810G>A | p.Glu604Lys | [46] |
| TMEM67/ RPGRIP1L | c.6012-12T>A | [15] | |
| TMEM138/ BBS1 | c.6012-12T>A | [15] | |
| INPP5E | c.1064C>T | p.T355M | [47] |
| TTC21B | c.2258C>T | p.P753L | [47] |
| INPP5E | c.1565G>C | p.Gly552Ala | [48] |
| AHI1 | c.703dupA | p.Arg235LysfsTer12 | [49] |
| AHI1 | c.2212C>T | p.Arg738Ter | [49] |
| AHI1 | p.Thr304AsnfsX6 | [50] | |
| AHI1 | c.832C>T | p.Gln278Ter | [51] |
| BBS2 | c.899A>G, c.1814C>G, c.2107C>T | [52] | |
| INPP5E | c.1073C>T, c.1669C>T | [52] | |
| CACNA1F | c.3582C>G, c.5704-5C>G | [52] |
The most frequent variant gene mutation in patients with Joubert syndrome in Ashkenazi, Hutterites community, Iranian, Japan and Kosovo populations
| Gene/Locus | Amino acid change | Population | Reference |
|---|---|---|---|
| TMEM216 | p.R73L | Ashkenazi population | [9,36] |
| TMEM237 | pR18 | Hutterites community | [9,36] |
| TMEM67 | p.Asn242Ser | Iranian families | [37] |
| TMEM67 | p.Arg110Gly; | Japanese | [15] |
| p.Ser771Pro; | |||
| p.Arg764*; | |||
| p.Gly132Ala; | |||
| p.Ser159Pro; | |||
| p.Met252Thr; | |||
| p.Tyr513*; | |||
| p.Ala145Ser | |||
| CEP290 | c.5493delA, p.(A1832fs*19) | Kosovo | [43] |