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NEUROLOGY 2006;67:1476-1478
© 2006 American Academy of Neurology
Brief Communications

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

F. Meggouh, PhD, H.M.E. Bienfait, MD, M. A.J. Weterman, PhD, M. de Visser, MD, PhD and F. Baas, MD, PhD

From the Neurogenetics Department (F.M., M.A.J.W., F.B.) and Department of Neurology (H.M.E.B., M.d.V., F.B.), Academic Medical Centre, Amsterdam, the Netherlands.

Address correspondence and reprint requests to Dr. F. Baas, Neurogenetics Laboratory AMC, Meibergdreef 9, 1105 AZ Amsterdam, Netherlands; e-mail: f.baas{at}amc.uva.nl

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.

Supported by a grant from the Netherlands Genomics Initiative (NWO Genomics) to F.B.

Disclosure: The authors report no conflicts of interest.

Received December 16, 2005. Accepted in final form June 15, 2006.




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