Table 1.
Clinical features of patients with DNAJB4 variants
| Family 1 | Family 2 | Family 3 | Family 4 | Family 5 [3] | Family A [5] | Family B [5] | Family C [5] | Family [6] | Patient #60 [9] | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Individual | P1 | P2 | P3 | P4 | P5 | P6 | P7 | AII:1 | BII:1 | CII:1 | CII:2 | ||
| DNAJB4 variant | Not tested | Hom c.547 C > T (p.R183*) | Hom c.105G > C (p.K35N) | Hom c.775 C > T (p.R259*) |
Hom exon2 deletion# |
Not tested | Hom c.181 A > G (p.R61G) |
Hom c.856 A > T (p.K286*) |
Hom c.785 T > C (p.L262S) |
Hom c.74G > A (p.R25Q) | Hom c.74G > A (p.R25Q) | Het c.270T > A (p.F90L) |
Hom c.308del (p.G103Efs*25) |
|
Ethnicity/ Consanguinity |
Saudi Arabian/Yes | Saudi Arabian/Yes |
Turkish /Yes |
Colombian/Yes | Arab/Yes |
Spanish /No |
Spanish /No |
Saudi Arabian/Yes |
Japanese /No |
NA | |||
| Sex | Male | Male | Male | Female | Male | Male | Male | Male | Female | Female | Male | 4 males, 2 females | Female |
| Age at last examination | 9 (deceased) | 2 | 7 (deceased) | 16 | 48 | 11 months (deceased) | 7 (deceased) | 33 | 63 | 8 (deceased at 11 years of age) | 6 | 49–75 | 39~ |
| 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 (28) | Respiratory failure (45) |
Neck stiffness, scoliosis (1) |
Neck stiffness, scoliosis (1) |
Weakness of thumb (late 20–30 s) | Weight loss (32) |
| Respiratory failure | Yes (4) | No | Yes (2) | Yes (1) | Yes (37) |
Yes (3 months) |
Yes (4 months) |
Yes (28) | Yes (45) | Yes | Yes | Yes (60–70 s) | Yes (33) |
| Rigid spine | Yes | No | Yes | Yes | No | NA | No | Yes | No | Yes | Yes | No | No |
| Neck stiffness |
Yes (9 months) |
Yes |
Yes (6 months) |
No | No | NA | No | No | No | Yes (1) | Yes (1) | No | No |
| Scoliosis | Yes | No | Yes | Yes | No | NA | No | No | No | No | No | No | No |
| Joint contractures | Yes (ankle) | No | Yes (ankle, 14 months) | No | No | NA | Yes (ankle) | No | No | No | No | Yes (Fingers) | No |
| Dysphagia | Yes (4) | No | Yes | No | No | NA | Yes | No | No | No | No | No | No |
| Cardiac finding | HCM | No | No | MI | HCM | NA | No | No | HCM | No | No | No | No |
| CK (U/L) | Normal | 165 | Normal | 1226 | 222 | NA | Normal | 500–700 | Normal | 350–400 | 350–400 | 646–1285 | Normal |
| EMG | Normal | NA | NA | Myopathic (Int. Poly, Short) | Myopathic (Poly. Short, Early Rec) | NA | NA | NA | Myopathic | Myopathic | Myopathic | Myopathic | NA |
Onset age of each symptom is indicated in parentheses. #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; Het = heterozygous; 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