Table 3.
XYLT1 Mutations in the Six DBQD Type 2-Affected Families
| Family | Ethnic Origin | Csg | No. of Affected Children | Nucleotide Change | Status | Amino Acid Change | Location |
|---|---|---|---|---|---|---|---|
| 1 | Tunisian | yes | 2 | c.1792C>T | Ho | p.Arg598Cys | Ex9 |
| 2 | Mauritian | yes | 1 | c.439C>T | Ho | p.Arg147∗ | Ex3 |
| 3 | Belgian | yes | 1 | c.276dupG | Ho | p.Pro93Alafs∗69 | Ex1 |
| 4 | Turkish | yes | 1 | c.1588−3C>T | Ho | ? | In7 |
| 5 | Turkish | yes | 1 | c.1290−2A>C | Ho | ? | In5 |
| 6 | Turkish | yes | 1 | c.1290−2A>C | Ho | ? | In5 |
Abbreviations are as follows: Csg, consanguinity; ho, homozygote; ?, mutation not localized in a protein domain.