Frequency of CMT subtypes
| CMT subtype (mutation) | n | Patients with genetic diagnosis (n=997; %) | Total patients (n=1652; %) | Total patients reported in prior studies at WS (n=787; %) and L (n=425; %)1014 |
|---|---|---|---|---|
| Frequency of common CMT subtypes | ||||
| CMT1A (PMP22dup) | 614 | 61.6 | 37.2 | 36.9 WS/39.5 L |
| CMT1X (GJB1) | 107 | 10.7 | 6.5 | 10.2 WS/10.8 L |
| CMT2A (MFN2) | 70 | 7.0 | 4.2 | 2.7 WS/2.8 L |
| CMT1B (MPZ) | 67 | 6.7 | 4.1 | 5.7 WS/3.1 L |
| HNPP (PMP22 del) | 31 | 3.1 | 1.9 | 6.1 WS/5.7 L |
| Total | 889 | 89.2 | 53.8 | 61.5 WS/62.5 L |
| Frequency of rare CMT1 subtypes | ||||
| CMT1C (LITAF) | 2 | 0.20 | 0.12 | 0.6 WS/0.9 L |
| CMT1D (EGR2) | 1 | 0.10 | 0.06 | 0.1 WS |
| CMT1E (PMP22) | 17 | 1.7 | 1.0 | 0.6 WS/1.4 L |
| CMT1F (NEFL) | 4 | 0.40 | 0.24 | 0.5 L |
| Frequency of rare CMT2 subtypes | ||||
| CMT2C (TRPV4) | 3 | 0.30 | 0.18 | 0.7 L |
| CMT2D (GARS) | 2 | 0.20 | 0.12 | 0.4 WS |
| CMT2E (NEFL) | 7 | 0.70 | 0.42 | 0.5 WS |
| CMT2K (GDAP1) | 3 | 0.30 | 0.18 | 0.6 WS |
| Frequency of CMT4 subtypes | ||||
| CMT4A (GDAP1) | 6 | 0.60 | 0.36 | 0.1 WS/0.5 L |
| CMT4B1 (MTMR2) | 2 | 0.20 | 0.12 | 0.2 L |
| CMT4C (SH3TC2) | 14 | 1.4 | 0.85 | 0.4 WS/1.2 L |
| CMT4F (PRX) | 3 | 0.30 | 0.18 | 0.1 WS |
| CMT4H (FGD4) | 1 | 0.10 | 0.06 | |
| CMT4J (FIG4) | 4 | 0.40 | 0.24 | 0.3 WS |
| AR CMT2A (LMNA) | 2 | 0.2 | 0.12 | |
| Frequency of HMN subtypes | ||||
| HMN2B (HSPB1) | 7 | 0.70 | 0.42 | 0.5 L |
| HMN2A (HSPB8) | 1 | 0.10 | 0.06 | |
| HMN5A (BSCL2) | 5 | 0.50 | 0.30 | 0.2 L |
| Frequency of HSN subtypes | ||||
| HSN1 (SPTLC1) | 24 | 2.4 | 1.5 | |
The diseases and genes are named according to OMIM (http://www.ncbi.nlm.nih.gov/Omim/) and HUGO (http://www.genenames.org/), respectively. AR, Autosomal Recessive; CMT, Charcot-Marie-Tooth; del, deletion; dup, duplicate; HMN, hereditary motor neuropath; HNPP, hereditary neuropathy with liability to pressure palsy; HSN, hereditary sensory neuropathy; L, London; WS, Wayne State.