Table 3. Mutations detected in the patients.
| Patients | Genes | Mutation 1 | Mutation 2 | Genotypes |
|---|---|---|---|---|
| Patient 1 | SLC3A1 | c.647C>T, p.T216M | c.1820delT, p.L607Hfs*4 | AA |
| Patient 2 | SLC3A1 | c.647C>T, p.T216M | c.2017T>C, p.C673R | AA |
| Patient 3 | SLC3A1 | c.46A>T†, p.K16* | c.1500+1G>A†, abnormal splicing | AA |
| Patient 4 | SLC3A1 | c.1820delT, p.L607Hfs*4 | c.1820delT, p.L607Hfs*4 | AA |
| Patient 5 | SLC3A1 | c.1820delT, p.L607Hfs*4 | c.1976A>C‡, p.Q659P | A- (or AA) |
| Patient 6 | SLC7A9 | c.1445C>T, p.P482L | c.1224+4166_1399+119del4972§ | BB |
| Patient 7 | SLC7A9 | c.1224+4166_1399+119del4972§ | ? | B- (?) |
| Patient 8 | Not done | - | - | unknown |
†Novel mutations; ‡A nucleotide variation of uncertain pathogenicity; §This large deletion causes a total deletion of exon 12.