Table 1.
Family | Countryof Origin | ParentsConsanguineous | Nucleotide Change | Amino Acid Change | MutatedExon(s) |
1 | Lebanon | Yes | 709C→T/709C→T | R237X/R237X | 6/6 |
2 | Saudi Arabia | Yes | 1190+1G→A/1190+1G→A | Frameshift causing a stop, 1 codon downstream | 10/10 |
3 | France | No | 709C→T/810+1G→A | R237X/frameshift causing a stop, 20 codons downstream | 6/6 |