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Two missense mutations in connexin32 (GJB1) in a CMT family
e140
British Society for Clinical Neurophysiology / Clinical Neurophysiology 118 (2007) e137–e140
Two missense mutations in connexin32 (GJB1) in a CMT family—J.C. Blake 1, W.K. Leong 2, I. Nelson 2, G.D. Anselmi 3, G.D. Perkin 4, M.M. Reilly 2 (1 Department of Clinical Neurophysiology, National Hospital for Neurology and Neurosurgery, London, UK, 2 Division of Clinical Neurology and Department of Molecular Pathogenesis, Institute of Neurology, London, UK, 3 Hudson Neurosciences, Bayonne, NJ, USA, 4 West London Neurosciences Centre, Charing Cross Hospital, London, UK) X linked Charcot-Marie-Tooth disease is caused by mutations in the connexin32 (gapjunction protein b1, GJB1) gene. Over 230 different mutations in GJB1 have been described. It is a clinically heterogenous disease with affected males more severely affected
than the females in the same pedigrees. Motor nerve conduction velocities are generally reduced in the demyelinating range in males, whereas females may have normal or only slightly reduced velocities. We describe a small English family with two novel missense mutations in GJB1 in which some unusual clinical features were seen. Females and the single affected male in the pedigree appeared to be equally affected, with no significant differences in nerve conduction studies. As well as usual phenotypic features of CMT disease, one affected female presented with prominent dysaesthetic symptoms and another had evidence of central nervous system disease. doi:10.1016/j.clinph.2006.07.206
British Society for Clinical Neurophysiology / Clinical Neurophysiology 118 (2007) e137–e140
Two missense mutations in connexin32 (GJB1) in a CMT family—J.C. Blake 1, W.K. Leong 2, I. Nelson 2, G.D. Anselmi 3, G.D. Perkin 4, M.M. Reilly 2 (1 Department of Clinical Neurophysiology, National Hospital for Neurology and Neurosurgery, London, UK, 2 Division of Clinical Neurology and Department of Molecular Pathogenesis, Institute of Neurology, London, UK, 3 Hudson Neurosciences, Bayonne, NJ, USA, 4 West London Neurosciences Centre, Charing Cross Hospital, London, UK) X linked Charcot-Marie-Tooth disease is caused by mutations in the connexin32 (gapjunction protein b1, GJB1) gene. Over 230 different mutations in GJB1 have been described. It is a clinically heterogenous disease with affected males more severely affected
than the females in the same pedigrees. Motor nerve conduction velocities are generally reduced in the demyelinating range in males, whereas females may have normal or only slightly reduced velocities. We describe a small English family with two novel missense mutations in GJB1 in which some unusual clinical features were seen. Females and the single affected male in the pedigree appeared to be equally affected, with no significant differences in nerve conduction studies. As well as usual phenotypic features of CMT disease, one affected female presented with prominent dysaesthetic symptoms and another had evidence of central nervous system disease. doi:10.1016/j.clinph.2006.07.206