Table 1.
Clinical and molecular findings in DNAJB6-related families.
| DNAJB6 mutation | References | Family ID | Ethnicity | Age of onset | Prevalent weakness distribution | EMG | Serum CK | Muscle pathology | Cardiac involvement | Loss of ambulation | Respiratory failure | Bulbar weakness |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c.265T>A p.Phe89Ile |
Sarparanta et al., 2012 | DUK1047 | Caucasian American | 20–55 | P > D; LL > UL |
Myopathic | Normal −10 x | Myopathic, RV, MA | No | na | No | No |
| c.265T>A p.Phe89Ile |
Sarparanta et al., 2012 | DUK1701 | Caucasian American | 14–55 | P > D; LL = UL |
Myopathic | Normal −3.5 x | Myopathic, not reassessed | No | Yes | No | Yes (3 of 15 patients) |
| c.265T>A p.Phe89Ile |
Suarez-Cedeno et al., 2014 | n.d. | Native American/Scottish | <10–adult | P > D; LL = UL; Ax |
Myopathic | Normal | RV, intracellular congophilic inclusions | No | Yes (a 50 years old pt with childhood onset) | No | No |
| c.265T>A p.Phe89Ile |
Couthouis et al., 2014 | n.d. | Caucasian American | 8–18 | P > D; LL > UL |
na | P1: 181 U/L P2: 3000 U/L | Rimmed vacuoles | No | Yes (the 56 years old proband) | Dyspnea and sleep-disorder breathing | No |
| c.271T>A p.Phe91Ile |
Palmio et al., 2015 | Family A | Finnish | 6–13 | P > D; LL > UL; Ax |
Myopathic | Normal −2 x | Myopathic, RV | No | Yes (at age 27 years) | Severe | Yes |
| c.271T>A p.Phe91Ile |
Ruggieri et al., 2015 | 1s | Italian | 16 | P > D; LL = UL |
Myopathic | Normal | Dystrophic, RV | No | Yes | Mild, non-Progressive | No |
| c.271T>C p.Phe91Leu |
Palmio et al., 2015 | B | British | 12 | P = D; LL > UL; Ax |
na | Normal | na, RV | No | Yes | Severe | Yes |
| c.271T >C p.Phe91Leu |
Nam et al., 2015 | Family 1 | Korean | 8–11 | P > D; LL > UL |
Myopathic | 83–245 U/L | Myopathic, RV | Prolonged QT, RBBB, 1st AV block | Yes (a female pt in her 20s) | Mild | Yes |
| c.273C>G p.Phe91Leu |
Ruggieri et al., 2015 | 2s | Italian | 11 | P = D; LL = UL |
Myopathic | 1.2 x | Dystrophic, RV | No | Yes | Nocturnal and daily non-invasive ventilation, cough mechanical assistance | Yes |
| c.277T>A p.Phe93Ile |
Sato et al., 2013 | FA | Japanese | 30s | P > D; LL > UL |
Myopathic | 268–1044 U/L | Myopathic, RV | CRBBB in FA-1 | No | No | No |
| c.277T>C p.Phe93Leu |
Harms et al., 2012 | Family 1 | Caucasian | 30s | P > D; LL > UL |
Myopathic | 2–5 x | RV, intracellular congophili cinclusions | No | No (wheelchair use for community mobility 20 years from onset) | No | No |
| c.277T>C p.Phe93Leu |
Sarparanta et al., 2012 | IT2 | Italian | 30–55 | P > D; LL > UL |
Myopathic | Normal −8 x | Myopathic, RV, MA | No | na | No | No |
| c.279C>A p.Phe93Leu |
Sarparanta et al., 2012 | IT1 | Italian | 20–50 | P > D; LL = UL |
Myopathic | 2 x | Myopathic, RV | No | na | No | No |
| c.279C>G p.Phe93Leu |
Sarparanta et al., 2012 | FF1 | Finnish | 20–60 | P > D; LL > UL |
Myopathic | Normal −3 x | Myopathic, RV, MA | No | Yes (a 80 years old patient) | No | Yes (1 of 10 pts) |
| c.279C>G p.Phe93Leu |
Sarparanta et al., 2012 | FF2 | Finnish | 45–50 | P > D; LL > UL |
Myopathic | 2–3 x | Myopathic, RV, MA | No | No | No | No |
| c.279C>G p.Phe93Leu |
Sarparanta et al., 2012 | FF3 | Finnish | 38 | P > D; LL > UL |
Myopathic | 3 x | Myopathic, RV, MA | No | No | No | Yes |
| c.279C>G p.Phe93Leu |
Sarparanta et al., 2012 | FF4 | Finnish | 28–40 | P > D; LL > UL |
Myopathic | Normal −8 x | Myopathic, RV, MA | No | No | No | No |
| c.279C>G p.Phe93Leu |
Sarparanta et al., 2012 | FF5 | Finnish | 40 | P > D; LL > UL |
Myopathic | Normal | Myopathic, RV, MA | No | No | No | Yes |
| c.279C>G p.Phe93Leu |
Sato et al., 2013 | FB | Japanese | 25 | P > D; LL > UL |
na | 696 U/L | Myopathic, RV | No | No | No | No |
| c.279C>G p.Phe93Leu |
Sato et al., 2013 | FC | Japanese | 50s | P > D; LL > UL |
na | 523 U/L | Myopathic, RV | No | No | No | No |
| c.279C>G p.Phe93Leu |
Sato et al., 2013 | FD | Japanese | 37–57 | P > D; LL > UL |
Myopathic | 165–251 U/L | Myopathic, RV | No | Yes (a 75 years old patient) | No | No |
| c.279C>G p. Phe93Leu |
Yabe et al., 2014 | FD | Japanese | 57 | P > D; LL > UL |
Myopathic | 93 U/L | Myopathic, RV | No | Yes | No | No |
| c.279C>G p.Phe93Leu |
Ruggieri et al., 2015 | 3s | Italian | 45 | P > D; LL > UL |
Myopathic | 1.5 x | Myopathic, RV | No | No | No | No |
| c.287C>G p.Pro96Arg |
Harms et al., 2012 | Family 2 | African American | 18–35 | D > P; LL = UL |
Myopathic | 278–339 U/L | na | No | Yes (within 20–30 years from onset) | No | No |
| c.298T>G p.Phe100Val |
Ruggieri et al., 2015 | Family 1 | Italian | 10–50 | P = D; LL > UL |
Myopathic | 1.5–4 x | Dystrophic, RV | No | Yes | Dyspnea | Yes (4 of 5 pts) |
| c.346+5G>A splicing | Ruggieri et al., 2015 | 4s | Italian | 6 | D > P; LL > UL |
Myopathic | 1.1 x | Dystrophic, RV | No | Yes | Mild | No |
Pt, patient; na, not available; RV, rimmed vacuoles; MA, myofibrillar accumulations; CRBBB, complete right bundle-branch block; RBBB, right bundle branch block; 1st AV block, first degree atrioventricular block; Ax, axial muscles.