Table 1.
Clinical features of patients with pathogenic variants in HNRNPA2B1.
| Family/Patient | Ethnicity | Sex/age at last examination (y) | Pathogenic HNRNPA2B1 varianta | Inheritance | Onset | Pattern of muscle weakness | CK level U/L |
|---|---|---|---|---|---|---|---|
| F1/P1 | Italian/Colombian | M/12 | c.992delG, p.(G331Efs*28) | de novo | Swallowing difficulties (2 y) | Ptosis, ophthalmoplegia, tongue weakness, dysphonia, symmetric proximal and distal weakness in LE > UE; moderate progression, dysphagia, respiratory insufficiency | 724 |
| F2/P2 | Northern European | M/17 | c.981delA, p.(G328Afs*31) | de novo | Neonatal feeding difficulties | Ptosis, ophthalmoplegia, symmetric proximal and distal weakness in LE > UE; moderate progression, dysphagia | 602 |
| F3/P3 | Ukrainian | F/17 | c.984delC, p.(S329Vfs*30) | de novo | Muscle weakness (6 y) | Ptosis, ophthalmoplegia, dysphonia, symmetric proximal and distal weakness in LE > UE; dysphagia, moderate progression | 994 |
| F4/P4 | English | F/40 | c.966delA, p.(N323Tfs*36) | Dominant | Ptosis, ophthalmoplegia (18 y) | Ptosis, ophthalmoplegia, symmetric proximal and distal weakness in LE > UE; moderate progression, dysphagia, respiratory insufficiency | 808 |
| F4/P5 | English | F/43 | c.966delA, p.(N323Tfs*36) | Dominant | Ptosis, ophthalmoplegia, dysphagia (17 y) | Ptosis, ophthalmoplegia, symmetric proximal and distal weakness in LE > UE; moderate progression, dysphagia, respiratory insufficiency | 1105 |
| F5/P6 | English | F/12 | c.1001delG, p.(G334Vfs*25) | Presumed de novo | Respiratory insufficiency requiring tracheostomy (birth) | Ptosis, ophthalmoplegia, asymmetric proximal and distal weakness LE > UE; mild progression, dysphagia, respiratory insufficiency | 770 |
| F6/P7 | French | F/9 | c.996_997dupTG, p.(G333Vfs*27) | de novo | Ptosis, ophthalmoplegia (6 months) | Ptosis, ophthalmoplegia, dysphonia, axial weakness; respiratory insufficiency, dysphagia, loss of independent ambulation (8 years) | 536 |
| F7/P8 | French | M/20 | c.980_986del, p.(G327Vfs*30) | de novo | Delayed motor milestones (infancy) | Ptosis, ophthalmoplegia, dysphonia, axial weakness, symmetric proximal UE and LE weakness, respiratory insufficiency | 2484 |
| F8/P9 | Italian | M/35 | c.974delG, p.(G325Vfs*34) | de novo | Slower than peers (5 y) | Ptosis, ophthalmoplegia, tongue weakness, symmetric proximal and distal weakness LE > UE; moderate/severe progression, respiratory insufficiency, dysphagia | 7067 |
| F9/P10 | Indian | F/7 | c.996_997dupTG, p.(G333Vfs*27) | de novo | Respiratory illness with acute onset ptosis (18 months) | Ptosis, ophthalmoplegia, dysphonia, symmetric LE > UE proximal, distal and axial weakness; loss of independent ambulation (7 years), ankle contractures, dysphagia, respiratory insufficiency | 424 |
| F10/P11 | Japanese | F/18 | c.1001_1002dupGT, p.(Y335Vfs*25) | Presumed de novo | Slow runner (childhood) | Ptosis, ophthalmoplegia, symmetric LE > UE proximal muscle weakness, respiratory insufficiency | 501 |
M male, F female, y years, CK creatine kinase, LE lower extremity, UE upper extremity.
aTranscript ID: NM_002137.