Table 1:
CDH1 Mutations in 25 Families/Kindreds
| Kindred | Patient | Age/Sex | CDH1 Mutation | Protein change | Description |
|---|---|---|---|---|---|
| A | 1 | 38F | c.2195G>A | p.R732Q | Missense mutation |
| B | 2, 18, 19, 26, 27, 42, 53 | 44M, 21F, 16F, 20F, 20F, 22M, 30F | c.1682insA | Frameshift mutation leading to premature stop codon | |
| C | 3 | 43m | c.1901C>T | p.A634V | Missense mutation |
| D | 4, 5, 6, 21 | 42M, 38F, 41M, 21F | 48+1 G>A | G to A at the +1 position of intron 1 (splice site mutation) | |
| E | 7, 8, 9, 28 | 50F, 49M, 26M, 38M | c.1003C>T | p.R335* | Nonsense mutation |
| F | 10, 14 | F27, 50F | c.3G>A | p.M1I | Missense mutation at start codon |
| G | 11 | 40F | Deletion entire CDH1 gene | Deletion of entire CDH1 gene | |
| H | 12, 13, 15, 16, 17, 20 | 48F, 55F, 49F, 22F, 57M, 25F | c.308G>A | p.W103* | Nonsense mutation |
| I | 22, 25 | 52F, 27F | c.1147C>T | p.Q363* | Nonsense mutation |
| J | 23 | 58M | c.1893insA | Frameshift mutation leading to premature stop codon | |
| K | 24, 29 | 55F, 33F | c.1979insT | p.D662* | Frameshift mutation leading to premature stop codon |
| L | 30 | 41F | c.1063delT | p.Leu355* | Frameshift mutation leading to premature stop codon |
| M | 31 | 42F | c.2293C>T | p.Q765* | Nonsense mutation |
| N | 32 | 46M | c.1999delC | Frameshift mutation leading to premature stop codon | |
| O | 33, 34 | 29M, 25F | c.2287G>T | p.Glu763* | Nonsense mutation |
| P | 35, 36, 43 | 54F, 51F | c.1895_1896delAC | p.His632Argfs*30 | Frameshift mutation leading to premature stop codon |
| Q | 37 | 52F | c.1137G>A | p.Thr379= | G to non-G change at the last nucleotide of an exon (splice site mutation) |
| R | 38 | 48F | c.1008G>T | p.E336D | Missense mutation |
| S | 39 | 51F | 5’UTR_3’UTRdel | Deletion | Deletion spans the entire CDH1 gene from 5’UTR to 3’UTR |
| T | 40, 41, 44, 45, 48 | 55F, 35F, 54F, 32M, 30M | c.1792C>T | p.R598* | Nonsense mutation |
| U | 46, 47 | 43M, 38M | c.2064_2065delTG | p.Cys688* | Frameshift mutation leading to premature stop codon |
| V | 49 | 50M | Deletion exons 4–16 | Predicted to results in loss of 85% of CDH1 coding sequence | |
| W | 50, 51 | 70F, 43M | c.1046del | p.Leu355* | Frameshift mutation leading to premature stop codon |
| X | 52 | 32M | c.1145del | p.Gly382Valfs*11 | Frameshift mutation leading to premature stop codon |
| Y | 54 | 32F | Deletion entire CDH1 gene | Deletion of entire CDH1 gene |