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单基因遗传病：腓骨肌萎缩症,显性中间A型

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导读	<P>中文名称：腓骨肌萎缩症,显性中间A型</P><P>英文名称：Charcot-Marie-Tooth Disease, Recessive Intermediate A </P><P>OMIM号： 608340 </P><P>所属系统：大脑和神经系统</P><P>遗传...

中文名称：腓骨肌萎缩症,显性中间A型英文名称：Charcot-Marie-Tooth Disease, Recessive Intermediate A OMIM号： 608340 所属系统：大脑和神经系统遗传方式：AR<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：GDAP1  参考序列：NM_018972 染色体位置：8q13-q21.1 </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>IVS5+24C-T </TD><TD>S</TD><TD>IVS5 +24 C-T</TD><TD>C</TD><TD>T</TD><TD>[1]</TD></TR><TR><TD>2</TD><TD>IVS4+1G-A </TD><TD>S</TD><TD>IVS4 +1 G-A</TD><TD>G</TD><TD>A</TD><TD>[2]</TD></TR><TR><TD>3</TD><TD>IVS2-1G-A </TD><TD>S</TD><TD>IVS2 -1 G-A</TD><TD>G</TD><TD>A</TD><TD>[3]</TD></TR><TR><TD>4</TD><TD>W31X </TD><TD>M</TD><TD>92</TD><TD>G</TD><TD>A</TD><TD>[4]</TD></TR><TR><TD>5</TD><TD>174_176delinsTGTG </TD><TD>DI</TD><TD>174_176</TD><TD>GCC</TD><TD>TGTG</TD><TD>[5]</TD></TR><TR><TD>6</TD><TD>P78L </TD><TD>M</TD><TD>233</TD><TD>C</TD><TD>T</TD><TD>[6]</TD></TR><TR><TD>7</TD><TD>Q99X </TD><TD>M</TD><TD>295</TD><TD>C</TD><TD>T</TD><TD>[7]</TD></TR><TR><TD>8</TD><TD>341_344delAAAG </TD><TD>D</TD><TD>341_344</TD><TD>AAAG</TD><TD></TD><TD>[8]</TD></TR><TR><TD>9</TD><TD>M116R </TD><TD>M</TD><TD>347</TD><TD>T</TD><TD>G</TD><TD>[9]</TD></TR><TR><TD>10</TD><TD>M116T </TD><TD>M</TD><TD>347</TD><TD>T</TD><TD>C</TD><TD>[10]</TD></TR><TR><TD>11</TD><TD>349_350insT </TD><TD>I</TD><TD>349_350</TD><TD>TA</TD><TD>T</TD><TD>[2]</TD></TR><TR><TD>12</TD><TD>R120W </TD><TD>M</TD><TD>358</TD><TD>C</TD><TD>T</TD><TD>[8]</TD></TR><TR><TD>13</TD><TD>R120Q </TD><TD>M</TD><TD>359</TD><TD>G</TD><TD>A</TD><TD>[11]</TD></TR><TR><TD>14</TD><TD>Q122K </TD><TD>M</TD><TD>364</TD><TD>C</TD><TD>A</TD><TD>[7]</TD></TR><TR><TD>15</TD><TD>R125X </TD><TD>M</TD><TD>373</TD><TD>C</TD><TD>T</TD><TD>[7]</TD></TR><TR><TD>16</TD><TD>S130C </TD><TD>M</TD><TD>389</TD><TD>C</TD><TD>G</TD><TD>[3]</TD></TR><TR><TD>17</TD><TD>439delA </TD><TD>D</TD><TD>439</TD><TD>A</TD><TD></TD><TD>[12]</TD></TR><TR><TD>18</TD><TD>P153L </TD><TD>M</TD><TD>458</TD><TD>C</TD><TD>T</TD><TD>[13]</TD></TR><TR><TD>19</TD><TD>T157P </TD><TD>M</TD><TD>469</TD><TD>A</TD><TD>C</TD><TD>[14]</TD></TR><TR><TD>20</TD><TD>R161H </TD><TD>M</TD><TD>482</TD><TD>G</TD><TD>A</TD><TD>[4]</TD></TR><TR><TD>21</TD><TD>Q163X </TD><TD>M</TD><TD>487</TD><TD>C</TD><TD>T</TD><TD>[15]</TD></TR><TR><TD>22</TD><TD>N178S </TD><TD>M</TD><TD>533</TD><TD>A</TD><TD>G</TD><TD>[16]</TD></TR><TR><TD>23</TD><TD>558delT </TD><TD>D</TD><TD>558</TD><TD>T</TD><TD></TD><TD>[17]</TD></TR><TR><TD>24</TD><TD>R191X </TD><TD>M</TD><TD>571</TD><TD>C</TD><TD>T</TD><TD>[18]</TD></TR><TR><TD>25</TD><TD>S194X </TD><TD>M</TD><TD>581</TD><TD>C</TD><TD>G</TD><TD>[4]</TD></TR><TR><TD>26</TD><TD>Q218E </TD><TD>M</TD><TD>652</TD><TD>C</TD><TD>G</TD><TD>[19]</TD></TR><TR><TD>27</TD><TD>V219D </TD><TD>M</TD><TD>656</TD><TD>T</TD><TD>A</TD><TD>[7]</TD></TR><TR><TD>28</TD><TD>P231L </TD><TD>M</TD><TD>692</TD><TD>C</TD><TD>T</TD><TD>[20]</TD></TR><TR><TD>29</TD><TD>L239F </TD><TD>M</TD><TD>715</TD><TD>C</TD><TD>T</TD><TD>[8]</TD></TR><TR><TD>30</TD><TD>C240Y </TD><TD>M</TD><TD>719</TD><TD>G</TD><TD>A</TD><TD>[21]</TD></TR><TR><TD>31</TD><TD>H256R </TD><TD>M</TD><TD>767</TD><TD>A</TD><TD>G</TD><TD>[16]</TD></TR><TR><TD>32</TD><TD>785delG </TD><TD>D</TD><TD>785</TD><TD>G</TD><TD></TD><TD>[22]</TD></TR><TR><TD>33</TD><TD>G271R </TD><TD>M</TD><TD>811</TD><TD>G</TD><TD>A</TD><TD>[8]</TD></TR><TR><TD>34</TD><TD>Y279C </TD><TD>M</TD><TD>836</TD><TD>A</TD><TD>G</TD><TD>[23]</TD></TR><TR><TD>35</TD><TD>Y279C </TD><TD>M</TD><TD>836</TD><TD>A</TD><TD>G</TD><TD>[1]</TD></TR><TR><TD>36</TD><TD>R282C </TD><TD>M</TD><TD>844</TD><TD>C</TD><TD>T</TD><TD>[22]</TD></TR><TR><TD>37</TD><TD>862_863insA </TD><TD>I</TD><TD>862_863</TD><TD>AC</TD><TD>A</TD><TD>[15]</TD></TR><TR><TD>38</TD><TD>N297K </TD><TD>M</TD><TD>891</TD><TD>C</TD><TD>A/G</TD><TD>[7]</TD></TR><TR><TD>39</TD><TD>R310Q </TD><TD>M</TD><TD>929</TD><TD>G</TD><TD>A</TD><TD>[24]</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 GDAP1 mutation in a Turkish family with CMT2K (CMT2K with novel GDAP1 mutation).Neuromolecular</dd><dd>[2].  Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermedia</dd><dd>[3].  Autosomal recessive axonal form of Charcot-Marie-Tooth Disease caused by compound heterozygous 3'-sp</dd><dd>[4].  Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease ty</dd><dd>[5].  Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.Neuropedi</dd><dd>[6].  A novel GDAP1 mutation P78L responsible for CMT4A disease in three Moroccan families.Can J Neurol Sc</dd><dd>[7].  Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth t</dd><dd>[8].  Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease.Neur</dd><dd>[9].  A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evi</dd><dd>[10].  A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Ma</dd><dd>[11].  CMT4A: identification of a Hispanic GDAP1 founder mutation.Ann Neurol. 2003 Mar;53(3):400-5.</dd><dd>[12].  A novel GDAP1 mutation 439delA is associated with autosomal recessive CMT disease.Can J Neurol Sci. </dd><dd>[13].  Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene.Acta</dd><dd>[14].  Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and</dd><dd>[15].  The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Char</dd><dd>[16].  [Mutation analysis of ganglioside-induced differentiation associated protein-1 gene in Chinese Charc</dd><dd>[17].  Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive</dd><dd>[18].  GDAP1 mutations in Czech families with early-onset CMT.Neuromuscul Disord. 2007 Jun;17(6):482-9. Epu</dd><dd>[19].  A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease.J Hum Genet. 2008;53(</dd><dd>[20].  A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth diseas</dd><dd>[21].  Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (</dd><dd>[22].  Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.Neurology. 2002 Dec 24</dd><dd>[23].  Clinical, electrophysiological and genetic studies of two families with mutations in the GDAP1 gene.</dd><dd>[24].  Variability of disease progression in a family with autosomal recessive CMT associated with a S194X </dd></dl></div>