title: Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene.
abstract: 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.
authors.affiliation: Neurogenetics Department, AMC, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
authors.forename: F
authors.initials: F
authors.lastname: Meggouh
authors.forename: H M E
authors.initials: HM
authors.lastname: Bienfait
authors.forename: M A J
authors.initials: MA
authors.lastname: Weterman
authors.forename: M
authors.initials: M
authors.lastname: de Visser
authors.forename: F
authors.initials: F
authors.lastname: Baas
mesh_terms: D000217:Acyltransferases / Q000235:genetics; D000328:Adult; D001216:Asparagine; D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000235:genetics*; D003596:Cytosine; D016523:Foot Ulcer / Q000209:etiology; D014644:Genetic Variation; D006147:Guanine; D006579:Heterozygote; D006801:Humans; D008239:Lysine; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D051102:Serine C-Palmitoyltransferase; D020691:rab GTP-Binding Proteins / Q000235:genetics*; D000090802:rab7 GTP-Binding Proteins
chemical_list: D000090802:rab7 GTP-Binding Proteins; C000716463:rab7 GTP-binding proteins, human; D006147:Guanine; D001216:Asparagine; D003596:Cytosine; D000217:Acyltransferases; C487784:SPTLC1 protein, human; D051102:Serine C-Palmitoyltransferase; D020691:rab GTP-Binding Proteins; D008239:Lysine