Table 2.
Mutations Found in Patients with BVVLS
| Case | Ethnic Origin | Consanguinity | Number of Affect Cases | Nucleotide Change | Amino Acid Change | Location |
|---|---|---|---|---|---|---|
| 1, 2 | Arabic | Y | 2 | c.1048T>A c.1325_1326 delTG |
p.L350M p.L442RfsX35 |
Exon 3 Exon 5 |
| 3 | European ancestry | N | 1 | c.211G>T | p.E71X | Exon 2 |
| 4 | European/Asian | N | 1 | c.639C>G | p.Y213X | Exon 3 |
| 5, 6 | Pakistani | Y | 2 | c.394C>T | p.R132W | Exon 2 |
| 7 | Pakistani | Y | 1 | c.670T>C | p.F224L | Exon 3 |
| 8 | European | N | 1 | c.1371C>G | p.F457L | Exon 5 |
| 9 | European | N | 1 | c.106G>A, c.1237T>C | p.E36K, p.V413A | Exon 2, Exon 5 |