Table 3.
Clinical features of patients carrying the c.974dupG variant in BSCL2 gene
| Patient | Genotype | Intellectual deficiency (age) | Language delay | Myoclonus(age) | Dystonia (age) | Seizures (age) | Gait ataxia (age) | Abnormal behavior (age) | Severe encephalopathy (age) | Lipodystrophy (age) | Hyper-triglyceridemia (age) | Hepatomegaly (age) | Exitus (age) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Case #1 | Hmzg | Yes (3) | Yes (2) | Yes (6) | Yes (7) | Yes (7) | Yes (7.8) | Yes (7.8) | Yes (9) | Yes (birth) | Yes (birth) | Yes (birth) | Yes (9.8) |
| Case #2 | Comp Htzg | No | Yes (2) | No | No | No | No | Yes (0.7) | No | Yes (birth) | Yes (birth) | Yes (birth) | No |
| Opri et al. 2016 [20] case #2 |
Hmzg | Yes (4) | N.R. | Yes (4) | N.R. | Yes (4) | Yes (6) | N.R. | Yes (7.5) | Yes (birth) | Yes (birth) | Yes (3) | Yes (7.8) |
| Opri et al. 2016 [20] case #3 |
Hmzg | Yes (early) | N.R. | Yes (5) | N.R. | Yes (5) | Yes (10) | N.R. | Yes (10) | Yes (birth) | Yes (birth) | N.R. | Yes (11) |
| Huang et al. 2010 [19] | Hmzg | No | N.R. | N.R. | N.R. | N.R. | N.R. | N.R. | N.R. | Yes (birth) | Yes (birth) | Yes (birth) | No (1.8) |
| Opri et al. 2016 [20] case #1 |
Comp Htzg (fs stop codon) |
Yes (?) | Yes (1) | Yes (1) | Yes (1) | Yes (1) | Yes (5) | N.R. | Yes (7) | Yes (5) | Yes (birth) | Yes (5) | Yes (9.9) |
| Wu et al. 2009 [18] | Comp Htzg (stop codon) |
Yes (?) | Yes (?) | No | Yes (?) | No | Yes (?) | Yes (?) | No | Yes (?) | N.R. | Yes (?) | No (28) |
| Poisson et al. 2018 [27] | Comp Htzg (missense) |
Yes (4–5) | Yes (3,5) | N.R. | Yes (16) | N.R. | Yes (16) | Yes (3) | Yes (23) | N.R. | N.R. | N.R. | Yes (28) |
| Agarwal et al. 2003 [17] | Simple Htzg | Yes (?) | N.R. | N.R. | N.R. | N.R. | N.R. | N.R. | N.R. | Yes (?) | N.R. | N.R. | No (9) |
N.R.: Not reported