Type 2B: CMT due to a de novo mutation of the RAB7 gene

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Neurology. 2006 Oct 24;67(8):1476-8.

Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene.

Meggouh F, Bienfait HM, Weterman MA, de Visser M, Baas F.

Neurogenetics Laboratory AMC, Meibergdreef 9, 1105 AZ Amsterdam,

Netherlands.

We report a 32-year-old patient with Charcot-Marie-Tooth (CMT2B)

including foot ulcerations. Genetic analysis identified a de novo

mutation in the small GTP-ase late endosomal RAB7 gene, consisting of

a c.471G>C, p.Lys157Asn missense mutation. This observation strongly

supports the hypothesis that RAB7 mutations are responsible for CMT2B.