Table 2.
Overview of Families in Which an EXT1 or EXT2 Mutation Was Identified
| Gene | Exon/intron | Mutation at DNA level | Protein change | Mutation type | First reference | Detection technique | Family number |
|---|---|---|---|---|---|---|---|
| EXT1 | |||||||
| Exon 1 | c.247dupC | Frame shift | This study | DHPLC | 155 | ||
| Exon 1 | c.538-539delAG | Frame shift | This study | DHPLC | 183 | ||
| Exon 1 | c.560-562delGTAinsC | Frame shift | This study | DHPLC | 188 | ||
| Exon 1 | c.644-664del | Frame shift | This study | DHPLC | 179 | ||
| Exon 1 | c.786C>G | p.Y262X | Nonsense | This study | DHPLC | 158 | |
| Exon 1 | c.793delG | Frame shift | This study | DHPLC | 164 | ||
| Intron 1 | c.962-2G>A | Splice site | This study | DHPLC | 199 | ||
| Exon 2 | c.992C>A | p.A331D | Missense | This study | DHPLC | 204 | |
| Exon 2 | c.992C>A | p.A331D | Missense | This study | DHPLC | 220 | |
| Exon 2 | c.1019G>T | p.R340L | Missense | 20 | DHPLC | 166 | |
| Exon 2 | c.1019G>T | p.R340L | Missense | 20 | DHPLC | 171 | |
| Exon 2 | c.1019G>T | p.R340L | Missense | 20 | DHPLC | 197 | |
| Intron 2 | c.1056 + 1G>A | Splice site | 21 | DHPLC | 187 | ||
| Intron 4 | c.1284 + 1G>T | Splice site | 22 | DHPLC | 145 | ||
| Exon 5 | c.1362dupA | Frame shift | This study | DHPLC | 144 | ||
| Exon 5 | c.1374T>G | p.Y458X | Nonsense | This study | DHPLC | 207 | |
| Intron 5 | c.1417 + 1G>A | Splice site | 23 | DHPLC | 181 | ||
| Exon 6 | c.1431delC | Frame shift | This study | DHPLC | 161 | ||
| Exon 6 | c.1468dupC | Frame shift | This study | DHPLC | 184 | ||
| Exon 6 | c.1469delT | Frame shift | 5 | DHPLC | 160 | ||
| Exon 6 | c.1469delT | Frame shift | 5 | DHPLC | 180 | ||
| Exon 6 | c.1477C>T | p.Q493X | Nonsense | This study | DHPLC | 176 | |
| Intron 6 | c.1536-1G>C | Splice site | This study | DHPLC | 165 | ||
| Exon 7 | c.1557T>A | p.C519X | Nonsense | This study | DHPLC | 174 | |
| Intron 7 | c.1632-2A>G | Splice site | 22 | DHPLC | 146 | ||
| Exon 8 | c.1659C>A | p.Y553X | Nonsense | This study | DHPLC | 186 | |
| Exon 8 | c.1685T>C | p.L562P | Missense | This study | DHPLC | 191 | |
| Exon 8 | c.1685T>C | p.L562P | Missense | This study | DHPLC | 178 | |
| Exon 8 | Deletion exon 8 | Deletion | This study | MLPA | 200 | ||
| Intron 8 | c.1722 + 1G>T | Splice site | This study | DHPLC | 152 | ||
| Intron 8 | c.1722-2A>C | Splice site | This study | DHPLC | 159 | ||
| Exon 9 | c.1810G>T | p.E604X | Nonsense | This study | DHPLC | 194 | |
| Exon 10 | c.2051delG | Frame shift | This study | DHPLC | 182 | ||
| Deletion exon 2-11 | Deletion | This study | FISH/MLPA | 147 | |||
| Deletion exon 2-11 | Deletion | This study | FISH/MLPA | 163 | |||
| t(4;8)(q25;q24.1) | Translocation | This study | FISH | 156 | |||
| Exon 3 | c.1065C>T | Polymorphism | |||||
| Exon 6 | c.1431C>T | Polymorphism | |||||
| Exon 9 | c.1761G>A | Polymorphism | |||||
| EXT2 | |||||||
| Exon 2 | c.178A>T | p.K60X | Nonsense | This study | DHPLC | 170 | |
| Exon 2 | c.269-271GTT>AAA | p.C90X | Nonsense | This study | DHPLC | 193 | |
| Exon 2 | c.451-461dup | Frame shift | This study | DHPLC | 185 | ||
| Exon 2 | c.484delC | Frame shift | This study | DHPLC | 177 | ||
| Exon 2 | Deletion EXT2 exon 2 | Deletion | This study | MLPA | 150 | ||
| Exon 4 | c.668G>C | p.R223P | Missense | 24 | DHPLC | 202 | |
| Intron 4 | c.743 + 1G>C | Splice site | This study | DHPLC | 169 | ||
| Exon 7 | c.1139dupT | Frame shift | This study | DHPLC | 172 | ||
| Exon 7 | c.1151-1154delAGAT | Frame shift | This study | DHPLC | 203 | ||
| Intron 7 | c.1173 + 1G>T | Splice site | 25 | DHPLC | 151 | ||
| Exon 8 | c.1191delA | Frame shift | This study | DHPLC | 175 | ||
| Exon 8 | c.1250G>C | p.R417P | Missense | This study | DHPLC | 198 | |
| Intron 6 | c.1080-18T>A | Polymorphism | |||||
| Intron 7 | c.1174-18G>T | Polymorphism | |||||
| Intron 11 | c.1807-51C>T | Polymorphism | |||||