Oral–facial–digital (OFD) genes identified by whole-exome sequencing or single-gene sequencing
| Case | Gene | Ciliary gene | OMIM | Mutation | Inheritance | EVS | ExAC | cDNA tests | |
| c. position | p. position | ||||||||
| Cohort analysed by exome | |||||||||
| 1 | DDX59 | NA | OFD syndrome V [174300] | c.754G>A c.754G>A | p.Gly252Arg p.Gly252Arg | Maternal Paternal | - | - | - |
| 2 | TMEM138 | + | Joubert syndrome 16 [614465] | c.352A>T c.352A>T | p.Met118Leu p.Met118Leu | NA NA | - | - | - |
| 3a/b | TMEM107 | + | - | c.134A>G c.134A>G | p.Glu45Gly p.Glu45Gly | Maternal Paternal | - | - | - |
| 4 | C2CD3 | + | OFD syndrome XIV [615948] | c.184C>T c.184C>T | p.Arg62* p.Arg62* | Maternal Paternal | - | - | - |
| 5 | INTU | + | - | c.396delT c.396delT | p.Asn132Lysfs*11 p.Asn132Lysfs*11 | NA NA | - | - | - |
| 6a | IFT57 | + | - | c.777G>A c.777G>A | p.Lys259Lys p.Lys259Lys | NA NA | - | - | Splice defect |
| 7 | C5orf42 | + | Joubert syndrome 17 [614615] | 3557delA c.3577C>T | Lys1186Argfs*22 p.Arg1193Cys | NA NA | - - | - - | - |
| 8 | C5orf42 | + | Joubert syndrome 17 [614615] | c.3290-2A>G c.493delA | - p.Ile165Tyrfs*17 | Maternal Paternal | - 1/6155 | - - | - |
| 9 | TMEM231 | + | Joubert syndrome 20 [614970] Meckel syndrome 11 [615397] | c.656C>T c.532C>G | p.Pro219Leu p.Pro178Ala | Maternal Paternal | - - | - - | - |
| 10 | WDPCP | + | Bardet–Biedl syndrome 15 [209900] | c.160G>A c.526_527delTT | p.Asp54Asn Leu176Ilefs*21 | Paternal Maternal | 1/11827 - | 7/119586 - | - |
| 11 | KIAA0753 | + | - | c.1546–3C>A c.1891A>T | - p.Lys631* | de novo Maternal | - - | - - | Splice defect - |
| 12 | OFD1 | + | OFD syndrome I [3111200] Joubert syndrome 10 [300804] Simpson-Golabi-Behmel syndrome 2 [300209] Retinitis pigmentosa 23 [300424] | c.260A>G | p.Tyr87Cys | de novo | - | - | - |
| 13 | OFD1 | + | c.1840delG | p.Ala614Hisfs*15 | de novo | - | - | - | |
| 20 | OFD1 | + | c.655-8A>G | - | de novo | - | - | - | |
| Replication cohort | |||||||||
| 25 | C5orf42 | + | Joubert syndrome 17 [614615] | c.3550C>T c.9121C>T | p.Arg1184Cys p.Gln3041* | Paternal Maternal | - - | - - | - |
| 26a/b | C5orf42 | + | Joubert syndrome 17 [614615] | c.3150–1G>T c.3150–1G>T | - - | Maternal Paternal | - - | - - | Splice defect Splice defect |
| 27 | C5orf42 | + | Joubert syndrome 17 [614615] | c.2377C>T c.8509G>T | p.Gln793* p.Val2837Leu | Paternal Maternal | - - | 2/22038 - | - |
| 28b | C5orf42 | + | Joubert syndrome 17 [614615] | c.493delA c.3380C>T | p.Ile165Tyrfs*17 p.Ser1127Leu | Paternal Maternal | - - | - - | - |
| 29 | C2CD3 | + | - | c.3085T>C c.3911-2A>T | p.Cys1029Gly - | NA | - 6/12978 | - 31/12 0818 | - Splice defect |
NA, not available.