Charcot Marie Tooth disease (CMT): genetic classification

CMT1: Autosomal dominant demyelinating

• CMT1A: PMP22 gene duplication on chromosome 17
• CMT1B: Myelin protein zero (MPZ) gene mutations on chromosome 1
• CMT1: LITAF/SIMPLE gene mutations Chromosome 16
• CMT1D: EGR2 gene mutations on chromosome 10q
• CMT1E: PMP22 gene mutations on chromosome 17
• CMT1F: NEFL gene mutations on chromosome 8p
• CMT1G: PMP22 gene mutations on chromosome 8q
• Fubilin-associated CMT: FBLN5 gene mutations

References

1. Patzko A, Shy ME. Charcot-Marie-Tooth disease and related genetic neuropathies. Continuum (Minneap Minn) 2012; 18:39-59.
2. Nicolau P, Christodoulou K. Advances in the molecular diagnosis of Charcot-Marie-Tooth disease. World J Neurol 2013; 3:42-55.
3. Reilly MM, Shy ME. Diagnosis and new treatments in genetic neuropathies. JNNP 2009; 80:1304–1314.
4. Gonzaga-Jauregui C, Harel T, Gambin T, et al. Exome sequence analysis suggests that genetic burden contributes to phenotypic variability and complex neuropathy. Cell Rep 2015; 12:1169-1183.
5. Kazamel M, Lopez MA, Bebin M, et al. Fibulin-5 mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis. Neurol Genet 2020; 6(4):e476.
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Related checklists

• Charcot Marie Tooth disease (CMT): distinctive features
• Charcot Marie Tooth disease (CMT): differentiating features
• Charcot Marie Tooth disease (CMT): investigations
• Charcot Marie Tooth disease (CMT): treatment