Table 1.
Clinical summary of seven individuals carrying the c.1267C>T (p.Arg423∗) variant in SLC37A4
| P1 | P2 | P3 | P4 | P5 | P6 | P7 | Marquardt et al.32 | Wilson et al.33 | Current cohort summary | |
|---|---|---|---|---|---|---|---|---|---|---|
| Family | French-1 | French-1 | Algerian-1 | Algerian-1 | Algerian-1 | French-2 | American-0397 | – | – | – |
| Gender | female | male | female | Female | male | female | male | female | female | – |
| Year of birth | 1985 | 2018 | 1973 | 2002 | 2007 | 2010 | 2009 | N/A | 1997 | – |
| Age of diagnosis | 29 years | 1 month | 42 years | 11 years | 4 months | 8 years | 5 years | 10 weeks | 36 days | – |
| Variant | c.1267C>T (p.Arg423∗) | c.1267C>T (p.Arg423∗) | c.1267C>T (p.Arg423∗) | c.1267C>T (p.Arg423∗) | c.1267C>T (p.Arg423∗) | c.1267C>T (p.Arg423∗) | c.1267C>T (p.Arg423∗) | c.1267C>T (p.Arg423∗) | c.1267C>T (p.Arg423∗) | – |
| Inheritance | unknown | maternally inherited | unknown | maternally inherited | maternally inherited | de novo | de novo | de novo | de novo | – |
| Method of detection | ES | Sanger | ES | ES | ES | Sanger | ES/GS | ES | ES | – |
| CDT results | abnormal-type II | abnormal-type II | abnormal-type II | abnormal-type II | abnormal-type II | abnormal-type II | abnormal-type II | abnormal-type II | abnormal-type II | 7/7 |
| apoC-III | altered O-glycan | altered O-glycan | altered O-glycan | altered O-glycan | altered O-glycan | altered O-glycan | altered O- glycan | N/A | N/A | 7/7 |
| Serum N-glycans | high man, hybrid | high man, hybrid | high man, hybrid | high man, hybrid | high man, hybrid | high man, hybrid | high man, hybrid | high man, hybrid | high man, hybrid | 7/7 |
| Cardiac abnormalities | none reported | perimembranous ventricular septal defect | none reported | none reported | tetralogy of Fallot | ventricular septal defect | none reported | none reported | none reported | 3/7 |
| Skeletal abnormalities | no | no | scoliosis | scoliosis | kyphoscoliosis | no | no | no | scoliosis | 3/7 |
| Ankyloglossia | no | no | no | no | yes | no | no | yes | no | 1/7 |
| AST (ref. 7–40 U/L) | 65 U/L (H) | N/A | 50 U/L (H) | 77 U/L (H) | 91 U/L (H) | 147 U/L (H) | 80 U/L (H) | 228 U/L (H) | 522 U/L (H) | 6/6 |
| F2 (ref. 60%–140%) | 31 (L) | 22 (L) | 57 (L) | 30 (L) | 20 (L) | 18 (L) | 27 (L) | 5.5 (L) | N/A | 7/7 |
| F5 (ref. 60%–140%) | 51 (L) | 52 (L) | 64 | 40 (L) | 39 (L) | 50 (L) | 29 (L) | 38.5 (L) | N/A | 6/7 |
| Fg (ref. 1.5–3.5 g/L) | 1.7 g/L | 1.7 g/L | 2.8 g/L | 1.8 g/L | 1.3 g/L (L) | 1.7 g/L | 1.5 g/L | 0.4 g/L (L) | 0.1 g/L (L) | 1/7 |
| F8 (ref. 60%–150%) | 117 | N/A | 165 | 130 | 144 | 109 | 85 | N/A | N/A | 0/6 |
| F9 (ref. 60%–140%) | 63 | N/A | 85 | 58 (L) | 42 (L) | 55 (L) | 44 (L) | N/A | N/A | 4/6 |
| F11 (ref. 60%–140%) | 59 (L) | N/A | 55 (L) | 31 (L) | 34 (L) | 22 (L) | 33 (L) | N/A | normal | 6/6 |
| SERPINC1 (ref. 80%–120%) | 28 (L) | 34 (L) | 60 (L) | 37 (L) | 32 (L) | 19 (L) | 32 (L) | 0 (L) | normal | 7/7 |
| PROC (ref. 50%–120%) | 110 | 49 | 97 | 72 | 73 | 59 | 94 | N/A | normal | 0/7 |
| PROS1 (ref. 60%–120%) | 41 (L) | 48 (L) | 70 | 43 (L) | 81 | 35 (L) | 35 (L) | N/A | normal | 5/7 |
Reference ranges: ALT, ref.; AST, ref. 7–40 U/L; F2, ref. 60%–140% activity; F5, ref. 60%–140% activity; Fg (g/L), ref. 1.5–3.5 g/L; F8, ref. 60%–150% activity; F9, ref. 60%–140% activity; F11, ref. 60%–140% activity; SERPINC1, ref. 80%–120% activity; PROC, ref. 50%–120% activity; PROS1, ref. 60%–120% activity. Abbreviations are as follows: L, low; H, high; N/A, not available.