Table 2.
Summary of patients with the new c.5668‐824C>T mutation in intron 50i
| Patient ID | Patient Origin | Intron 50i Mutation | Second DYSF Mutation | Second DYSF Mutation Effects | Laboratory | Sibling Groups |
|---|---|---|---|---|---|---|
| JF23 | UK | c.5668‐824C>T | c.5698_5699delAG |
p.Ser1900GlnfsX14 Stop at p.1913, C2 domain G |
1, 5 | A |
| JF196 | UK | c.5668‐824C>T | c.5698_5699delAG |
p.Ser1900GlnfsX14 Stop at p.1913, C2 domain G |
1, 5 | A |
| IGM7 | UK | c.5668‐824C>T | c.5698_5699delAG |
p.Ser1900GlnfsX14 Stop at p.1913, C2 domain G |
5 | A |
| IGM8 | UK | c.5668‐824C>T | c.5698_5699delAG |
p.Ser1900GlnfsX14 Stop at p.1913, C2 domain G |
5 | A |
| JF404 | USA | c.5668‐824C>T | c.2997G>T |
p.Trp999Cys Missense, DysF domain |
2, 4 | B |
| JF1729 | USA | c.5668‐824C>T | c.2997G>T |
p.Trp999Cys Missense, DysF domain |
2 | B |
| JF4228 | USA | c.5668‐824C>T | c.5668‐824C>T | 2 | ||
| TDM48 | India | c.5668‐824C>T | c.5668‐824C>T | 3 | ||
| TDM57 | India | c.5668‐824C>T | c.2998T>C |
p.Ser1000Pro Missense, inner DysF domain |
1, 3 | C |
| TDM58 | India | c.5668‐824C>T | c.2998T>C |
p.Ser1000Pro Missense, DysF domain |
3 | C |
| TDM63 | India | c.5668‐824C>T | c.5668‐824C>T | 3 | ||
| TDM93 | India | c.5668‐824C>T | c.5668‐824C>T | 3 | ||
| TDM180 | India | c.5668‐824C>T | c.5668‐824C>T | 3 | ||
| TDM182 | India | c.5668‐824C>T | c.5668‐824C>T | 3 | ||
| TDM196 | India | c.5668‐824C>T | c.5668‐824C>T | 2 | ||
| TDM230 | India | c.5668‐824C>T | c.1911C>G |
p.Tyr637X Stop at p.637 |
2 | |
| F1‐170‐1‐2 | France | c.5668‐824C>T | c.855+1delG |
p.285 Exon 8 +1 delG, splicing C2 domain B |
4 | D |
| F1‐170‐2‐2 | France | c.5668‐824C>T | c.855+1delG |
p.285 Exon 8 +1 delG, splicing C2 domain B |
4 | D |
| F1‐436‐1‐0 | India | c.5668‐824C>T | c.5668‐824C>T | 4 | ||
| IGM1 | UK | c.5668‐824C>T | c.1911c>G |
p.Tyr637X Stop at p.637 |
5 | |
| IGM2 | UK | c.5668‐824C>T | c.5668‐824C>T | 5 | ||
| IGM3 | UK | c.5668‐824C>T | c.2434dup |
p.811 Ferlin domain B |
5 | |
| IGM4 | UK | c.5668‐824C>T | c.937+1G>A |
p.312 Exon 10 +1G>A, splicing Ferlin domain |
5 |
Initial patients found to carry the mutation are in italic type. The intron 50i mutation is highlighted in bold. Siblings that are members of four families, A, B, C and D are indicated in the last column. Laboratory that identified the patient's mutation:
- Univ. Massachusetts Medical School, Worcester.
- Emory Univ. School of Medicine, Atlanta.
- Emory Univ. School of Medicine, Atlanta, described in Dastur et al. 2017.
- Marseille Medical Genetics, Aix‐Marseille University, Marseille.
- Institute of Genetic Medicine, Newcastle.