Charcot-Marie-Tooth 1B caused by expansion of a familial myelin protein zero (MPZ) gene duplication

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• 作者：Marsha D. Speevak ; S ; ra A. Farrell
• 关键词：Charcot&ndash ; Marie&ndash ; Tooth disease ; Myelin protein zero ; Copy number variant ; Hypotonia ; Microarray
• 刊名：European Journal of Medical Genetics
• 出版年：2013
• 出版时间：October, 2013
• 年：2013
• 卷：56
• 期：10
• 页码：566-569
• 全文大小：505 K

文摘

Charcot-Marie-Tooth (CMT) disease is a group of hereditary disorders affecting the motor and sensory nerves of the peripheral nervous system. CMT patterns of inheritance include dominant, recessive, and X-linked disorders. Charcot-Marie-Tooth disease, type 1B (CMT1B, OMIM 118200) is an autosomal dominant neuropathy caused by mutations in myelin protein zero (MPZ, OMIM 159440), a structural protein of peripheral myelin. Most causative MPZ mutations are missense sequence variants; however, recent clinical reports have described cases of CMT1B caused by increased dosage of the MPZ gene, with over-expression of the MPZ protein suspected to be causative of the disorder. We report an unusual case of early onset de novo CMT1B, caused by amplification of a familial, apparently benign, MPZ duplication.