Deletion and Nonsense Mutations of the Connexin 32 Gene Associated with Charcot-Marie-Tooth Disease

抄録

Two patients with a mild to moderate phenotype of Charcot-Marie-Tooth disease were identified to carry the mutations of the connexin (Cx) 32 gene. One of the patient had a novel nonsense mutation of tryptophan at amino acid 132 and the other had a deletion of the Cx 32 gene. Our study indicated that a loss of Cx 32 function contributes to a major pathogenesis of X-linked Charcot-Marie-Tooth disease.