Table 1.
A list of some important candidate genes and loci identified for nonsyndromic orofacial clefts and platforms for identification over time
| Candidate genes and genomic locia | Technology and methodology | Timeline |
|---|---|---|
| IRF6 | Linkage, Association, Targeted sequencing, GWAS, Exome sequencing, Copy number variation | A, B |
| FOXE1 | Linkage, Association, Targeted sequencing, GWAS | A, B |
| MSX1 | Targeted sequencing | A |
| BMP4 | Targeted sequencing | A |
| FGFR1 | Targeted sequencing | A |
| FGFR2 | Targeted sequencing | A |
| CRISPLD2 | Linkage and Association | A |
| SUMO1 | Mutation screen | A |
| TFGβ | Association | A |
| MAFB | GWAS | B |
| PAX7 | GWAS | B |
| VAX1 | GWAS | B |
| ARHGAP29 | GWAS, Mutation Screen | B |
| Chr8q.24 | GWAS | B |
| Chr16p13.3 | GWAS | B |
| VAX1, | GWAS | B |
| NOG | GWAS | B |
| GRHL3 | Linkage, Exome sequencing | A, C |
| CDH1 | Exome sequencing, Targeted sequencing | B |
| MGAM | Copy number variation | B |
| ADAM3A | Copy number variation | C |
| ADAM5A | Copy number variation | C |
A = pre‐GWAS era, B = GWAS era, C = post‐GWAS era.
a
This is not an exhaustive list but a representation of some important genes discovered using various statistical approaches and technology in the pre‐GWAS, GWAS, and post‐GWAS era.