Table I.
Age of onset, initial clinical presentation and genetic information in reported cases with CGDS involving DMD, GK, NR0B1 and IL1RAPL1 genes.
| Patient’s number | Involved Genes (centromere-telomere direction) | Deletion Size | Age at clinical presentation | Symptoms | Metabolic Laboratory findings | CK values in U/L | Reference |
|---|---|---|---|---|---|---|---|
| 1 | DMD; other genes were not investigated | n.r. | 19 days | Dehydration; intermitting vomiting; developmental delay; global weakness; calf hypertrophy; reflexes absent, ID | ↓natraemia,17-OH-progesterone ↑ kalaemia, triglycerides, urinary glycerol | 2.507 | Ramanjam V. et al., 2010 |
| 2 | DMD; other genes were not investigated | n. r. | prenatal | Hypotonia; waddling gait; difficulty in climbing stairs, ID | ↓17-OH-progesterone ↑ triglycerides, urinary glycerol | 5.307 | Ramanjam V. et al., 2010yes |
| 3 | DMD (exons 62-66), GK, NR0B1 | n. r. | 42 months | Nausea; vomiting, global development delay; unable to walk, go upstairs, run fast; Gower’s sign; calf hypertrophy, ID | ↓natraemia,cortisol, cholesterol, apolipoprotein-B, HDL- ↑ kalaemia, LDH, ALT, triglycerides, α-OH-butyratedehydrogenase | 5.798 | Ma H. et al., 2004 |
| 4 | DMD, GK | n. r. | 4 months | Failure to thrive; global developmental delay; axial hypotonia; distal hypertonia, ID | ↑ LDH, ALT, AST, triglycerides, urinary glycerol | 10.818 | Jamroz E. et al.,2010 |
| 5 | DMD, GK | 3.7Mb | 7 months | Global development delay; hypotonia; unable to walk, to go upstairs, to sit, ID | ↑ LDH, ALT, AST, triglycerides, urinary glycerol | 14.576 | Present Case |
| 6 | DMD (exons 45-79), GK | n. r. | 36 days | failure to thrive; global developmental delay; difficulty in walking, getting up from the seated position; Gower’s sign; calf hypertrophy | ↓natraemia, glycaemia, cortisol, aldosteron; 17-OH-progesterone ↑ kalaemia, ACTH, renin, triglycerides, urinary glycerol | 12.395 | Rathnasiri A. et al.,2021 |
| 7 | DMD, GK, NR0B1 | n. r. | 11 days | salt loss with lethargy; vomiting; metabolic acidosis; progressive muscle weakness, ID | ↓natraemia, glycemia; ↑ kalaemia, triglycerides, serum and urinary glycerol | n.r. | Pantoja-Martines J. et al., 2007 |
| 8 | DMD, GK, NR0B1 | n. r. | 48 days | Hypotonia, growth retardation, vomiting, dark skin | ↓natraemia,17-OH-progesterone ↑ kalaemia, ALT, AST, triglycerides, α-OH-butyratedehydrogenase urinary, glycerol | 1.586 | Tao N. et al., 2002 |
| 9 | DMD, GK, NR0B1 | 3.88Mb | 18 days | Weight <3rd percentile; dehydration; dysmorphic facial features | ↓natraemia, glycemia; ↑ kalaemia, triglycerides, urinary glycerol; α-OH-butyrate; LDH, ALT,AST | 1.586 | Korkut S. et al., 2016 |
| 10 | DMD (partial), GK, NR0B1, IL1RAPL1 (part) | n. r. | 36 days | Difficulty to feed, vomiting, weight loss, hypotonia, dehydration | ↓natraemia, glycemia; ↑ kalaemia, triglycerides, urinary glycerol | 5.758 | Korkut S. et al., 2016 |
| 11 | DMD, GK, NR0B1, IL1RAPL1 | n. r. | 7 months | Global developmental delay; pronounced axial hypotonia, ID | ↑ triglycerides, serum and urinary glycerol | 12.829 | Sanz-Ruiz I. et al., 2009 |
| 12 | DMD (exons 62-79), GK, NR0B1, IL1RAPL1 | n. r. | 1 month | Generalized hypotonia; inadequate breast-feeding; failure to thrive; decreased skin turgor; sitting with support | ↓natraemia; ↑ kalaemia, ALT, AST, triglycerides, LDH | 7.019 | Sevim U. et al., 2011 |
| 13 | IL1RAPL1, MAGEB1-4, ROB,CXorf2, GM, AP3K71P,FTHL1, DMD, FAM47A, TMEM47, FAM47B | 5.8Mb | data not available | Liu L. et al., 2021 | |||
| 14 | DMD, GK, CFAP47, CYBB, XK,RPGR | 7.5Mb | 19 days | Macrosomia, neonatal sepsis; liver and lung abscesses | ↑ ALT, AST, triglycerides | 1.115 | Bi S. et al., 2023 |
Legend: n.r. = not reported; DMD = Duchenne muscular dystrophy; GK = glycerol kinase; nR0B1 = nuclear receptor superfamily 0, group B, member 1; IL1RAPL1 = interleukin 1 receptor accessory protein-like 1.