TABLE 1.
Variants in GLS reported in patients with GLS hyperactivity of loss‐of‐function
| Allele 1 a | Allele 2 a | Effect | Dominant | Reference | |
|---|---|---|---|---|---|
| Patient 1 | c.1445C > G p.(Ser482Cys) | ‐ | Hyperactivity | Yes | 3 |
| Patient 2 | c.1382A > T p.(His461Leu) | ‐ | Hyperactivity | Yes | This case |
| Patient 3 | c.866A > T p.(Lys289Ile) | ‐ | ? | ? | 4 |
| Patient 4 | 8 kb duplication expanding exon 1 | 8 kb duplication expanding exon 1 | Loss | No | 5 |
| Patients 5 and 6 | c.815G > A p.(Arg272Lys) | c.241C > T p.(Gln81*) | Loss | No | 6 |
| Patients 7 and 8 | c.695dup p.(Asp232Glufs*2) | c.695dup p.(Asp232Glufs*2) | Loss | No | 6 |
| Patient 9 | c.938C > T p.(Pro313Leu) | 5′ UTR b | Loss | No | 7 |
| Patient 10 | 5′ UTR b | 5′ UTR b | Loss | No | 7 |
| Patient 11 | c.923dup p.(Tyr308*) | 5′ UTR b | Loss | No | 7 |