Table 2.
Overview of reported patients with DPMS related CDG (DPM1, DPM2, DPM3-CDG)
| No. | PROBAND | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | Patient 7 | Patient 8 | Patient 9 | Patient 10 | Patient 11 | Patient 12 | Patient 13 | Patient 14 | Patient 15 | Patient 16 | Patient 17 | Patient 18 | Patient 19 | Patient 20 | Patient 21 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Publication | current | Kim et al, 2000 | Kim et al, 2000 | Imbach et al, 2000 | Imbach et al, 2000 | Garcia Silva et al, 2004 | Dancourt et al, 2006 | Dancourt et al, 2006 | Yang et al, 2013 | Bursle et al, 2016 | Medrano et al, 2019 | Medrano et al, 2019 | Medrano et al, 2019 | Barone et al, 2012 | Barone et al, 2012 | Barone et al, 2012 | Lefeber et al, 2009 | Van Der Berg et al, 2017 | Svahn et al, 2019 | Svahn et al, 2019 | Tol et al, 2019 | Fu et al, 2019 |
| Age*/Sex | 23yo/M | 3yo/M | 10mo/NA | 3y 4mo/M | 19 mo/F | 9yo/F | 14yo/B | 30mo/F | 9mo/M | 10yo/F | 25yo/F | 11yo/F | 8yo/F | 36mo† F | 16mo†/M | 9mo†/M | 27yo/F | 57yo/F | 26yo/M | 48yo/M | 10yo/F | 8yo/F |
| Gene | DPM2 | DPM1 | DPM1 | DPM1 | DPM1 | DPM1 | DPM1 | DPM1 | DPM1 | DPM1 | DPM1 | DPM1 | DPM1 | DPM2 | DPM2 | DPM2 | DPM3 | DPM3 | DPM3 | DPM3 | DPM3 | DPM3 |
| Genetic mutation | c.139C>T; c.173G>A | Homozygous c.274C>G; | c.274C>G; 20q13.13 13-BP DEL | c.274C>G; c.628delC | c.274C>G; c.628delC | Homozygous c.742T>C | Homozygous g.IVS4–5T>A | Homozygous g.IVS4–5T>A | Homozygous c.455 G>T | c.1A>C c.274C>G | Homozygous c.742T>C | Homozygous c.742T>C | c.742T>C; c.564-1G>A | c.4-1G>C c.68A>G | Homozygous c.68A>G | Homozygous c.68A>G | Homozygous c.254T>C | Homozygous c.131T>G | c.41T-C DEL 1q.22 | c.41T-C 1q.22 DEL | Homozygous c.254T>C | c.124C>G; c.254T>A |
| Facial Dysmorphism | − | − | + | + | + | + | − | − | − | + | + | + | + | + | + | + | − | − | − | − | − | − |
| Progressive microcephaly | + | + | + | + | + | + | + | + | + | + | + | − | + | + | + | + | − | − | − | − | − | − |
| Inverted nipples | − | + | − | − | − | + | − | − | − | − | − | − | − | − | − | − | − | − | − | − | − | − |
| Feeding difficulties | − | + | − | − | + | + | − | − | − | + | − | + | + | + | − | − | − | − | − | − | ||
| Developmental delay | + | +++ | + | +++ | +++ | ++ | +++ | + | + | ++ | + | + | + | +++ | +++ | +++ | − | − | − | − | − | + |
| Intellectual disability | + | NA | NA | NA | NA | ++ | ++ | NA | NA | + | + | + | + | NA | NA | NA | − | − | − | − | + | |
| Seizures | − | + | + | ++ | ++ | ++ | ++ | − | ++ | + | + | + | + | ++ | ++ | ++ | − | − | − | + | − | + |
| Liver involvement | − | − | − | ++ | ++ | − | − | + | − | − | − | + | + | ++ | − | − | − | − | − | − | − | |
| Neurological involvement | − | + | + | + | +++ | ++ | ++ | ++ | − | + | + | + | + | ++ | + | + | − | − | + | + | − | + |
| Muscle involvement | + | +++ | +++ | + | + | + | + | ++ | + | + | + | + | + | +++ | +++ | +++ | + | ++ | + | +++ | + | + |
| Coagulopathy | − | + | + | + | + | + | + | − | − | − | − | + | + | + | − | − | − | − | − | − | − | − |
| Cardiac involvement | + | − | − | − | − | − | − | − | − | − | − | − | − | + | − | + | +++ | + | − | |||
| Ophthalmologic involvement | + | +++ | +++ | − | + | + | ++ | + | − | − | + | + | + | + | − | − | − | − | − | − | − | − |
| Transaminases | − | + | − | ++ | + | − | − | − | − | − | − | − | − | + | − | − | + | − | − | − | + | − |
| CK | ++ | + | +++ | ++ | + | + | − | − | ++ | ++ | − | − | − | ++ | ++ | ++ | ++ | ++ | ++ | ++ | + | ++ |
| TIEF | Midly abnormal | increased disialo Tf, but very little, if any, asialo Tf | increased disialo Tf, little, if any, asialo Tf | CDG type I | CDG type I | CDG type I | CDG type I | CDG type I | CDG type I | Increased disialotransferrin | Increased asialo and disialo transferrin | Increased asialo and disialo transferrin | Increased asialo and disialo transferrin | increased disialotransferrin | NA | NA | First CDG type I, Repeat: mildly abnormal;increased disialo- but also trisialotransferrin | Normal | CDG type I | CDG type I | Increased disialotransferrin | NA |
*
age at the time of the publication; NA- not applicable; - normal/absent, +− mild, ++ moderate, +++ severe presentation/symptoms
†
deceased.