Table 1. Clinical and genetic findings of CMT patients with novel mutations in the GJB1, MPZ and PMP22 genes.
| ID | Sex | Family history | Age of onset (years) | Age at examination (years) | mNCV/ CMAP (m/s/mV) | sNCV/ SNAP (m/s/μV) | UL weakness | LL weakness | Tendon reflexes | Sensory impairment | Pes cavus | Additional findings | Gene | Nucleotide position | aa change |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | M | Sa | 5–6 | 41 | 48/1.9 | 37/7.2 | + | +++ | N | ND | +++ | No | GJB1 | c.11C>A | p.T4K |
| 2 | M | F (4) | 7–8 | 28 | ND | ND | +++ | +++ | A | ND | +++ | Cerebellar signs in one affected individual | GJB1 | c.94A>G | p.R32G |
| 3 | F | F (3) | 6 | 31 | 40/3.6 | NR | + | + | D | ND | + | No | GJB1 | c.155delT | p.I52TfsX31 |
| 4 | F | F (2) | 5–6 | 50 | 31/0.1 | NR | ++ | +++ | A | ND | ++ | No | GJB1 | c.278T>A | p.M93K |
| 5 | M | F (8) | ND | 68 | ND | ND | +++ | +++ | ND | +++ | No | GJB1 | c.437A>C | p.E146A | |
| 6 | M | F (2) | Newborn | 18 | 34/14 | 38/5 | − | +++ | D/A | Yes | +++ | No | GJB1 | c.592T>G | p.S198A |
| 7 | F | F (4) | 16 | 46 | 35/1.6 | 37/1 | + | +++ | A | Yes | ND | No | GJB1 | c.829_904 del14 | p.S277GfsX128 |
| 8 | F | F | 2 | 9 | 4/0.8 | NR | ++ | ++ | A | Yes | + | No | MPZ | c.89T>G | p.I30S |
| 9 | F | Sa | 10 | 37 | 53/ND | 58/ND | ND | ND | ND | ND | ND | No | MPZ | c.98A>T | p.Y33F |
| 10 | F | F | 5–6 | 38 | 16/6 | 27/9 | + | + | A/D | Yes | ++ | No | MPZ | c.148T>G | p.C50G |
| 11 | M | F (5) | Childhood | 27 | 29/2 | 33/ND | − | ++ | D | Yes | +++ | No | MPZ | c.298C>T | p.Q100X |
| 12 | M | S de novo | 1 | 1.5 | 11/ND | NR | ++ | ++ | D | No | no | Macro-cephalia | MPZ | c.553delC | p.R185AfsX66 |
| 13 | M | F (3) | 43 | 45 | 34/12 | 36/17 | − | − | D | Yes | +++ | No | MPZ | c.670G>T | p.D224Y |
| 14 | F | F | 10 | 52 | 39/7.0 | 38/10 | − | + | N/A | Yes | ++ | Gait ataxia | PMP22 | c.332T>C | p.M111T |
Sex: F, female; M, male; Family history: S, sporadic; F, familial; if F is the number of affected relatives with the same mutation.
a
Parents not available for examination; mNCV, motor nerve conduction velocities of median nerve; sNCV, sensory nerve conduction velocities of median nerve; CMAP, compound motor action potential of abductor pollicis brevis muscle; SNAP, sensory nerve action potential of median nerve; ND, no data; NR, no response; UL, upper limbs; LL, lower limbs; +, mild; ++, moderate; +++, severe; −, absent; N, normal; A, absent; D, diminished; aa, amino acid.