Table 1.
List of the LDL receptor gene mutations found in the current study
| Mutation, systematic name | Nucleotide change | Exon/Intron | Rapid test method | Occurrence in other populations [7, 8] | Number of families (patients) with the mutation |
| Missense-mutations | |||||
| C308Y | c.985 G>A | exon 7 | FblI | China | 2 (2) |
| L380H (FH Pori) | c.1202 T>A | exon 9 | MnlI | Finland | 1 (1) |
| D601N | c.1864 G>A | exon 13 | EcoRV | None (New) | 1 (2) |
| C646S | c.1999 T>A | exon 14 | SSCP | None (New) | 1 (1) |
| V776M | c.2389 G>A | exon 16 | SSCP | China (Hong-Kong), Cuba, South Africa (Afrikaners) | 1 (2) |
| V806I (FH New York-5) | c.2479 G>A | exon 17 | The Netherlands, USA | 1 (1) | |
| Nonsense-mutations | |||||
| Q12X (FH Turkey/Milan-4) | c.97 C>T | exon 2 | MaeI | Italy, France, Turkey | 1 (2) |
| E207X (FH Morocco) | c.682 G>T | exon 4 | MaeI | China, Germany, Korea, Morocco, Norway, Sweden, UK, USA | 1 (2) |
| C249X | c.810 C>A | exon 5 | DdeI, Fnu4HI | None (New) | 1 (1) |
| W422X | c.1328 G>A | exon 9 | MaeI | None (New) | 2 (3) |
| Splice site mutations | |||||
| IVS3+1G>A (FH-Elverum/ Olbia) | c.313+1G>A | intron 3 | SSCP | Austria, Belgium, Denmark, Germany, Italy, Spain, Korea, Norway, The Netherlands, UK, Sweden, South Africa (black) | 2 (3) |
| IVS9+1G>A | c.1358+1G>A | intron 9 | AsuHPI | The Netherlands | 1 (1) |
| Frameshift mutations | |||||
| FsK202: S205X | c.670-671insG | exon 4 | SSCP | None (New) | 1 (2) |
| FsE287: V348X (FH North Karelia) | c.925-931del7 | exon 6 | SSCP | Finland, Sweden, USA | 1 (1) |
| FsE291: N309X | c.936-940del5 | exon 6 | SSCP | None (New) | 1 (1) |
| FsV409: S423X | c.1291-1331del41 | exon 9 | Sizing | None (New) | 1 (3) |
| FsE414: M429X | c.1302delG | exon 9 | SSCP | Germany | 1 (1) |
| FsV597: A622X | c.1855-1856insA | exon 13 | None (New) | 1 (1) | |
| In-frame deletions | |||||
| G197del | c.651-653del3 | exon 4 | HA | UK | 2 (2) |
| Neutral mutations | |||||
| T705I (FH Paris-9) | c.2177 C>T | exon 15 | Denmark, France, The Netherlands, UK, USA etc. | 1 (1) | |
| Silent mutations | |||||
| P518P | c.1617 C>T | exon 11 | None (New) | 1 (1) | |
Footnote: HA – heteroduplex analysis; SSCP – single-strand conformation polymorphism analysis. Numeration of nucleotides and aminoacids follows Yamamoto's nomenclature [17] and the letter c. before the number of nucleotide indicates that it was taken from cDNA sequence.