Table 1.
Clinical features of identified patients with DNAJB4 variants.
| Family 1 | Family 2 | Family 3 | Family 4 | Family 5 [7] | |||
|---|---|---|---|---|---|---|---|
| Individual | P1 | P2 | P3 | P4 | P5 | P6 | P7 |
| DNAJB4 variant | Not tested | Hom c.547C > T (p.R183*) | Hom c.105G > C (p.K35N) | Hom c.775C > T (p.R259*) | Hom exon2 deletion# | Not tested | Hom c.181A > G (p.R61G) |
| Ethnicity/Consanguinity | Saudi Arabian/Yes | Saudi Arabian/Yes | Turkish/Yes | Colombian/Yes | Arab/Yes | ||
| Sex | Male | Male | Male | Female | Male | Male | Male |
| Age at last examination | 9 (deceased) | 2 | 7 (deceased) | 16 | 48 | 11 months (deceased) | 7 (deceased) |
| First symptoms (age) | Neck stiffness (9 months) | Neck stiffness (5 months) | Neck stiffness (6 months) | Recurrent respiratory infection (1) | Muscle weakness (31) | Respiratory failure (3 months) | Respiratory failure (4 months) |
| Respiratory failure | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
| Rigid spine | Yes | No | Yes | Yes | No | NA | No |
| Neck stiffness | Yes | Yes | Yes | No | No | NA | No |
| Scoliosis | Yes | No | Yes | Yes | No | NA | No |
| Joint contractures | Yes (ankle) | No | Yes (ankle) | No | No | NA | Yes (ankle) |
| Dysphagia | Yes | No | Yes | No | No | NA | Yes |
| Cardiac finding | HCM | No | No | MI | HCM | NA | No |
| CK | Normal | 165 | normal | 1226 | 222 | NA | Normal |
| EMG | Normal | NA | NA | Myopathic (Int. Poly, Short) | Myopathic (Poly. Short, Early Rec) | NA | NA |
#
hg38 chr1:78,013,051–78,013,619; P1, BOS_0868-1; P2, BOS_0868-4; P3, BOS_1575-1; NA = not available; Hom = homozygous; HCM = hypertrophic cardiomyopathy; MI = mitral insufficiency; CK = creatine kinase; EMG = electromyography; Int = interference; Poly = polyphasic pattern of motor unit action potential; Short = short duration of motor unit action potential; Early Rec = early recruitment.