Table 2.
Family A [5] | Family B [5] | Family C [5] | Family [4] | Patient #60 [6] | ||
---|---|---|---|---|---|---|
Individual | AII:1 | BII:1 | CII:1 | CII:2 | ||
DNAJB4 variant | Hom c.856A > 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 | Spanish/no | Spanish/no | Saudi Arabian/yes | Japanese/no | NA | |
Sex | Male | Female | Female | Male | 4 males, 2 females | Female |
Age at last examination | 33 | 63 | 11 (deceased) | 6 | 49–75 | 39~ |
First symptoms (age) | Respiratory failure (28 years) | Respiratory failure (45 years) | Neck stiffness, scoliosis (1 year) | Neck stiffness, scoliosis (1 year) | Weakness of thumb (late 20 s – 30 s) | Weight loss (32 years) |
Respiratory failure | Yes | Yes | Yes | Yes | Yes (60 s – 70 s) | Yes |
Rigid spine | Yes | No | Yes | Yes | No | No |
Neck stiffness | No | No | Yes | Yes | No | No |
Scoliosis | No | No | No | No | No | No |
Joint contractures | No | No | No | No | Yes (Fingers) | No |
Dysphagia | No | No | No | No | No | No |
Cardiac finding | No | HCM | No | No | No | No |
CK | 500–700 | Normal | 350–400 | 350–400 | 646–1285 | Normal |
EMG | NA | Myopathic | Myopathic | Myopathic | Myopathic | NA |
NA = not available; Hom = homozygous; Het = heterozygous; HCM = hypertrophic cardiomyopathy; CK = creatine kinase; EMG = electromyography.