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单基因遗传病：轴突型腓骨肌萎缩症2J型

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导读	<P>中文名称：轴突型腓骨肌萎缩症2J型</P><P>英文名称：Charcot-Marie-Tooth Disease, Axonal, Type 2J; Cmt2J </P><P>OMIM号： 607736 </P><P>所属系统：大脑和神经系统</P><P>遗传方式：...

中文名称：轴突型腓骨肌萎缩症2J型英文名称：Charcot-Marie-Tooth Disease, Axonal, Type 2J; Cmt2J OMIM号： 607736 所属系统：大脑和神经系统遗传方式：AD<DIV class=hdwiki_tmml>疾病简介</DIV>腓骨肌萎缩症（CMT）亦称为遗传性运动感觉神经病（HMSN）,具有明显的遗传异质性,临床主要特征是四肢远端进行性的肌无力和萎缩伴感觉障碍。CMT是最常见的遗传性周围神经病之一（发病率约为1/2500）。多数呈常染色体显性遗传,也可呈常染色体隐性或X-连锁遗传。常染色体隐性遗传的CMT虽发病率低但较其他两种遗传方式表型严重,且发病年龄较早。<DIV class=hdwiki_tmml>相关基因突变信息</DIV><DIV>基因名称：MPZ  参考序列：NM_000530 染色体位置：1q22 </DIV><DIV><TABLE class=table><TBODY><TR><TD> 突变ID</TD><TD> 突变位点</TD><TD> 突变类型</TD><TD>编码区位置 </TD><TD> 野生型</TD><TD>突变型 </TD><TD> 参考文献</TD></TR><TR><TD>1</TD><TD>S20F </TD><TD>M</TD><TD>59</TD><TD>C</TD><TD>T</TD><TD>[1]</TD></TR><TR><TD>2</TD><TD>S44F </TD><TD>M</TD><TD>131</TD><TD>C</TD><TD>T</TD><TD>[2]</TD></TR><TR><TD>3</TD><TD>S51F </TD><TD>M</TD><TD>152</TD><TD>C</TD><TD>T</TD><TD>[3]</TD></TR><TR><TD>4</TD><TD>E56K </TD><TD>M</TD><TD>166</TD><TD>G</TD><TD>A</TD><TD>[4]</TD></TR><TR><TD>5</TD><TD>D60H </TD><TD>M</TD><TD>178</TD><TD>G</TD><TD>C</TD><TD>[5]</TD></TR><TR><TD>6</TD><TD>D61G </TD><TD>M</TD><TD>182</TD><TD>A</TD><TD>G</TD><TD>[6]</TD></TR><TR><TD>7</TD><TD>I62M </TD><TD>M</TD><TD>186</TD><TD>C</TD><TD>G</TD><TD>[5]</TD></TR><TR><TD>8</TD><TD>Y82H </TD><TD>M</TD><TD>244</TD><TD>T</TD><TD>C</TD><TD>[7]</TD></TR><TR><TD>9</TD><TD>I89N </TD><TD>M</TD><TD>266</TD><TD>T</TD><TD>A</TD><TD>[8]</TD></TR><TR><TD>10</TD><TD>V92M </TD><TD>M</TD><TD>274</TD><TD>G</TD><TD>A</TD><TD>[8]</TD></TR><TR><TD>11</TD><TD>E97V </TD><TD>M</TD><TD>290</TD><TD>A</TD><TD>T</TD><TD>[9]</TD></TR><TR><TD>12</TD><TD>D109E </TD><TD>M</TD><TD>327</TD><TD>T</TD><TD>A</TD><TD>[10]</TD></TR><TR><TD>13</TD><TD>D118N </TD><TD>M</TD><TD>352</TD><TD>G</TD><TD>A</TD><TD>[11]</TD></TR><TR><TD>14</TD><TD>Y119C </TD><TD>M</TD><TD>356</TD><TD>A</TD><TD>G</TD><TD>[6]</TD></TR><TR><TD>15</TD><TD>Q141X </TD><TD>M</TD><TD>421</TD><TD>C</TD><TD>T</TD><TD>[3]</TD></TR><TR><TD>16</TD><TD>I162M </TD><TD>M</TD><TD>486</TD><TD>C</TD><TD>G</TD><TD>[8]</TD></TR><TR><TD>17</TD><TD>K236E </TD><TD>M</TD><TD>706</TD><TD>A</TD><TD>G</TD><TD>[11]</TD></TR></TBODY></TABLE></DIV><DIV class=hdwiki_tmml>相关基因检测机构</DIV>本项目在美国已经开展多年，费用昂贵，约3000美元/人（单基因遗传病检测的均价），目前国内开展单基因疾病检测的机构及公司较少，价格比美国稍便宜，约1500美元/人，随着成本的下降，检测费用会更低。目前可以做单基因遗传病检测机构包括：<a href='http://www.jmdna.com' title='解码DNA分子医学检测中心'>解码DNA分子医学检测中心（上海）等基因检测机构</a><div><dl class=reference><dt>参考资料</dt><dd>[1].  Novel C59T leader peptide mutation in the MPZ gene associated with late-onset, axonal, sensorimotor </dd><dd>[2].  Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene.</dd><dd>[3].  Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB</dd><dd>[4].  An axonal form of Charcot-Marie-Tooth disease with a novel missense mutation in the myelin protein z</dd><dd>[5].  Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.</dd><dd>[6].  Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (As</dd><dd>[7].  Late onset axonal Charcot-Marie-Tooth phenotype caused by a novel myelin protein zero mutation.</dd><dd>[8].  Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype c</dd><dd>[9].  Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation.</dd><dd>[10].  A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth diseas</dd><dd>[11].  Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy pati</dd></dl></div>