单基因遗传病： 腓骨肌萎缩症1F

<P>中文名称： 腓骨肌萎缩症1F</P><P>英文名称：Charcot-Marie-Tooth Disease, Demyelinating, Type 1F; Cmt1F </P><P>OMIM号： 607734&nbsp;</P><P>所属系统：大脑和神经系统</P><P>遗传方式：AD</P><DIV class=hdwiki_tmml>疾病简介</DIV><P>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。</P><DIV class=hdwiki_tmml>相关基因突变信息</DIV><DIV>基因名称：NEFL&nbsp; <BR>参考序列：NM_006158 <BR>染色体位置：8p21 <BR></DIV><DIV><TABLE class=table><TBODY><TR><TD><P align=center>&nbsp;<strong>突变ID</strong></P></TD><TD><P align=center><strong>&nbsp;突变位点</strong></P></TD><TD><P align=center><strong>&nbsp;突变类型</strong></P></TD><TD><P align=center><strong>编码区位置&nbsp;</strong></P></TD><TD><P align=center><strong>&nbsp;野生型</strong></P></TD><TD><P align=center><strong>突变型&nbsp;</strong></P></TD><TD><P align=center><strong>&nbsp;参考文献</strong></P></TD></TR><TR><TD><P align=center>1</P></TD><TD><P align=center>E7K </P></TD><TD><P align=center>M</P></TD><TD><P align=center>19</P></TD><TD><P align=center>G</P></TD><TD><P align=center>A</P></TD><TD><P align=center>[1]</P></TD></TR><TR><TD><P align=center>2</P></TD><TD><P align=center>22_23delinsAG </P></TD><TD><P align=center>DI</P></TD><TD><P align=center>22_23</P></TD><TD><P align=center>CC</P></TD><TD><P align=center>AG</P></TD><TD><P align=center>[2]</P></TD></TR><TR><TD><P align=center>3</P></TD><TD><P align=center>P8L </P></TD><TD><P align=center>M</P></TD><TD><P align=center>23</P></TD><TD><P align=center>C</P></TD><TD><P align=center>T</P></TD><TD><P align=center>[1]</P></TD></TR><TR><TD><P align=center>4</P></TD><TD><P align=center>P8R </P></TD><TD><P align=center>M</P></TD><TD><P align=center>23</P></TD><TD><P align=center>C</P></TD><TD><P align=center>G</P></TD><TD><P align=center>[1]</P></TD></TR><TR><TD><P align=center>5</P></TD><TD><P align=center>P8Q </P></TD><TD><P align=center>M</P></TD><TD><P align=center>23</P></TD><TD><P align=center>C</P></TD><TD><P align=center>A</P></TD><TD><P align=center>[1]</P></TD></TR><TR><TD><P align=center>6</P></TD><TD><P align=center>60_61ins13 </P></TD><TD><P align=center>I</P></TD><TD><P align=center>60_61</P></TD><TD><P align=center>GA</P></TD><TD><P align=center>GCGCTACGTG</P></TD><TD><P align=center>[3]</P></TD></TR><TR><TD><P align=center>7</P></TD><TD><P align=center>P22S </P></TD><TD><P align=center>M</P></TD><TD><P align=center>64</P></TD><TD><P align=center>C</P></TD><TD><P align=center>T</P></TD><TD><P align=center>[4]</P></TD></TR><TR><TD><P align=center>8</P></TD><TD><P align=center>P22T </P></TD><TD><P align=center>M</P></TD><TD><P align=center>64</P></TD><TD><P align=center>C</P></TD><TD><P align=center>A</P></TD><TD><P align=center>[5]</P></TD></TR><TR><TD><P align=center>9</P></TD><TD><P align=center>E210X </P></TD><TD><P align=center>M</P></TD><TD><P align=center>628</P></TD><TD><P align=center>G</P></TD><TD><P align=center>T</P></TD><TD><P align=center>[6]</P></TD></TR><TR><TD><P align=center>10</P></TD><TD><P align=center>L268P </P></TD><TD><P align=center>M</P></TD><TD><P align=center>803</P></TD><TD><P align=center>T</P></TD><TD><P align=center>C</P></TD><TD><P align=center>[7]</P></TD></TR><TR><TD><P align=center>11</P></TD><TD><P align=center>963_977del15 </P></TD><TD><P align=center>D</P></TD><TD><P align=center>963_977</P></TD><TD><P align=center>ATGCCGGGGCATGAA</P></TD><TD><P align=center></P></TD><TD><P align=center>[7]</P></TD></TR><TR><TD><P align=center>12</P></TD><TD><P align=center>Q332P </P></TD><TD><P align=center>M</P></TD><TD><P align=center>995</P></TD><TD><P align=center>A</P></TD><TD><P align=center>C</P></TD><TD><P align=center>[8]</P></TD></TR><TR><TD><P align=center>13</P></TD><TD><P align=center>L334P </P></TD><TD><P align=center>M</P></TD><TD><P align=center>998</P></TD><TD><P align=center>T</P></TD><TD><P align=center>C</P></TD><TD><P align=center>[9]</P></TD></TR><TR><TD><P align=center>14</P></TD><TD><P align=center>E397K </P></TD><TD><P align=center>M</P></TD><TD><P align=center>1189</P></TD><TD><P align=center>G</P></TD><TD><P align=center>A</P></TD><TD><P align=center>[10]</P></TD></TR><TR><TD><P align=center>15</P></TD><TD><P align=center>1579_1581delGAG </P></TD><TD><P align=center>D</P></TD><TD><P align=center>1576_1578</P></TD><TD><P align=center>GAG</P></TD><TD><P align=center></P></TD><TD><P align=center>[1]</P></TD></TR></TBODY></TABLE></DIV><DIV class=hdwiki_tmml>相关基因检测机构</DIV><P>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></P><div><dl class=reference><dt>参考资料</dt><dd><span>[1].</span>&nbsp;&nbsp;Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth </dd><dd><span>[2].</span>&nbsp;&nbsp;Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease</dd><dd><span>[3].</span>&nbsp;&nbsp;A novel duplication/insertion mutation of NEFL in a patient with Charcot-Marie-Tooth disease.Am J Me</dd><dd><span>[4].</span>&nbsp;&nbsp;A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family.Neurogenetics. 20</dd><dd><span>[5].</span>&nbsp;&nbsp;Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: </dd><dd><span>[6].</span>&nbsp;&nbsp;NEFL-related Charcot-Marie-tooth disease: an unraveling story.Ann Neurol. 2009 Dec;66(6):714-6.</dd><dd><span>[7].</span>&nbsp;&nbsp;Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.Brain. 2007 Feb;130(Pt 2):394-40</dd><dd><span>[8].</span>&nbsp;&nbsp;A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neur</dd><dd><span>[9].</span>&nbsp;&nbsp;Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy pati</dd><dd><span>[10].</span>&nbsp;&nbsp;The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morpholo</dd></dl></div>