MPZ lys236缺失突变家族与迟发CMT的基因型和表型关系研究  

Genotype-phenotype correlation in a family with late onset CMT and an MPZ lys236del mutation

作　　者：Sowden J.E. Logigian E.L. Malik K. Herrmann D.N. 王晓琳 

机构地区：[1]Department of Neurology, Box 673, Univ. of Rochester Medical Center, 601 Elmwood Ave, Rochester,NY 14642, United States

出　　处：《世界核心医学期刊文摘（神经病学分册）》2005年第7期31-31,共1页Digest of the World Core Medical Journals:Clinical Neurology

摘　　要：An in frame, lys236 deletion in the intracytoplasmic domain of myelin protein zero (MPZ) has recently been designated as a mutation possibly associated with C harcot-Marie-Toothdisease (CMT) but requiring further documentation. In this r eport we present a detailed clinical, electrophysiological, and genotype correla tion in three generations of a family with the MPZ lys236del mutation and provid e further evidence that this mutation is associated with CMT. The MPZ lys236del mutationis associated with an autosomal dominant, adult onset CMT phenotype, wit h variable penetrance ranging from an asymptomatic state to foot deformities, pe dal numbness, and muscle cramps. Nerve conduction studies disclose intermediate range, somewhat non-uniform slowing of motor nerve conduction, which is accentu ated in forelimb rather than distal nerve segments. Based on the contrasting fin ding of entire lynormal conduction velocities (CV) in a genetically affected 15 year old in this family, it remains to be established whether CV slowing with th is mutation is progressive in life, a pattern that would contrast with CMT1a (PM P22 gene duplication).An in frame, lys236 deletion in the intracytoplasmic domain of myelin protein zero (MPZ) has recently been designated as a mutation possibly associated with C harcot-Marie-Toothdisease (CMT) but requiring further documentation. In this r eport we present a detailed clinical, electrophysiological, and genotype correla tion in three generations of a family with the MPZ lys236del mutation and provid e further evidence that this mutation is associated with CMT. The MPZ lys236del mutationis associated with an autosomal dominant, adult onset CMT phenotype, wit h variable penetrance ranging from an asymptomatic state to foot deformities, pe dal numbness, and muscle cramps. Nerve conduction studies disclose intermediate range, somewhat non-uniform slowing of motor nerve conduction, which is accentu ated in forelimb rather than distal nerve segments. Based on the contrasting fin ding of entire lynormal conduction velocities (CV) in a genetically affected 15 year old in this family, it remains to be established whether CV slowing with th is mutation is progressive in life, a pattern that would contrast with CMT1a (PM P22 gene duplication).

关 键 词：CMT MPZ lys236 缺失突变 神经传导 MYELIN 携带者 足畸形 外显率 髓鞘蛋白 designated 

分 类 号：R741[医药卫生—神经病学与精神病学]