Table 3.
CDH1 and CTNND1 mutations found in patients with the blepharocheilodontic syndrome (BCDS)
| Gene | Alteration | Location | Type | BCDS cases | Reference |
| CDH1 | c.760G>T (p.Asp254Tyr) | Exon 6 | Missense | 1 | 85 |
| CDH1 | c.760G>A (p.Asp254Asn) | Exon 6 | Missense | 7 | 86 |
| CDH1 | c.768T>G (p.Asn256Lys) | Exon 6 | Missense | 2 | 86 |
| CDH1 | c.770A>C (p.Asp257Val) | Exon 6 | Missense | 1 | 85 |
| CDH1 | c.862G>C (p.Asp288His) | Exon 7 | Missense | 1 | 86 |
| CDH1 | c.1118C>G (p.Pro373Arg) | Exon 8 | Missense | 3 | 86 |
| CDH1 | c.1320G>T | Exon 9 | Splice site? | 2 | 85 |
| CDH1 | c.1320+1G>C | Intron 9 | Splice site | 2 | 85 |
| CDH1 | c.1320+1G>A | Intron 9 | Splice site | 2 | 86 |
| CDH1 | c.1320+1G>T | Intron 9 | Splice site | 1 | 86 |
| CDH1 | c.1320+5G>A | Intron 9 | Splice site | 1 | 86 |
| CDH1 | c.1361_1363del (p.Val454del) | Exon 10 | Deletion | 1 | 85 |
| CDH1 | c.2028C>A (p.Asp676Glu) | Exon 13 | Missense | 1 | 84 |
| CTNND1 | c.606_627del (p.Pro203Leufs*25) | Exon 6 | Frameshift | 1 | 85 |
| CTNND1 | c.1093C>T (p.Gln365*) | Exon 7 | Nonsense | 1 | 85 |
| CTNND1 | c.1372C>T (p.Arg458*) | Exon 7 | Nonsense | 5 | 86 |
| CTNND1 | c.1595G>A (p.Gly532Asp) | Exon 8 | Missense | 1 | 86 |
| CTNND1 | c.2098C>T (p.Arg700*) | Exon 14 | Nonsense | 2 | 85 |
| CTNND1 | c.2489G>A (p.Trp830*) | Exon 16 | Nonsense | 1 | 86 |
For each genetic alteration, the location, type of mutation, number of BCDS cases, as well as the corresponding reference are displayed.