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单基因遗传病：肌-眼-脑病

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导读	<P>中文名称：肌-眼-脑病</P><P>英文名称：Muscle-Eye-Brain Disease; Meb </P><P>OMIM号： 253280 </P><P>所属系统：多系统疾病</P><P>遗传方式：AR</P><DIV class=hdwi...

中文名称：肌-眼-脑病英文名称：Muscle-Eye-Brain Disease; Meb OMIM号： 253280 所属系统：多系统疾病遗传方式：AR<DIV class=hdwiki_tmml>疾病简介</DIV>肌-眼-脑病(muscle-eye-braindisease,MEB)是以先天性肌营养不良、眼球异常和大脑畸形(无脑回畸形Ⅱ型)为特征的临床综合征<DIV class=hdwiki_tmml>相关基因突变信息</DIV><DIV>基因名称：POMGNT1  参考序列：NM_017739 染色体位置：1p34-p33 </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>IVS21+5_+8delGTGA </TD><TD>D</TD><TD>IVS21 +5_+8 del GTGA</TD><TD>GTGA</TD><TD></TD><TD>[1]</TD></TR><TR><TD>2</TD><TD>IVS21+1G-T </TD><TD>S</TD><TD>IVS21 +1 G-T</TD><TD>G</TD><TD>T</TD><TD>[1]</TD></TR><TR><TD>3</TD><TD>IVS21+1G-A </TD><TD>S</TD><TD>IVS21 +1 G-A</TD><TD>G</TD><TD>A</TD><TD>[1]</TD></TR><TR><TD>4</TD><TD>IVS17+1G-T </TD><TD>S</TD><TD>IVS17 +1 G-T</TD><TD>G</TD><TD>T</TD><TD>[2]</TD></TR><TR><TD>5</TD><TD>IVS17+1G-A </TD><TD>S</TD><TD>IVS17 +1 G-A</TD><TD>G</TD><TD>A</TD><TD>[2]</TD></TR><TR><TD>6</TD><TD>IVS17-2A-G </TD><TD>S</TD><TD>IVS17 -2 A-G</TD><TD>A</TD><TD>G</TD><TD>[3]</TD></TR><TR><TD>7</TD><TD>IVS15-2A-G </TD><TD>S</TD><TD>IVS15 -2 A-G</TD><TD>A</TD><TD>G</TD><TD>[1]</TD></TR><TR><TD>8</TD><TD>IVS9+5G-T </TD><TD>S</TD><TD>IVS9 +5 G-T</TD><TD>G</TD><TD>T</TD><TD>[1]</TD></TR><TR><TD>9</TD><TD>IVS2-27C-T </TD><TD>S</TD><TD>IVS2 -27 C-T</TD><TD>C</TD><TD>T</TD><TD>[4]</TD></TR><TR><TD>10</TD><TD>IVS1+33T-G </TD><TD>S</TD><TD>IVS1 +33 T-G</TD><TD>T</TD><TD>G</TD><TD>[4]</TD></TR><TR><TD>11</TD><TD>25_26insC </TD><TD>I</TD><TD>25_26</TD><TD>CT</TD><TD>C</TD><TD>[5]</TD></TR><TR><TD>12</TD><TD>R16W </TD><TD>M</TD><TD>46</TD><TD>C</TD><TD>T</TD><TD>[6]</TD></TR><TR><TD>13</TD><TD>R63X </TD><TD>M</TD><TD>187</TD><TD>C</TD><TD>T</TD><TD>[7]</TD></TR><TR><TD>14</TD><TD>L82L </TD><TD>M</TD><TD>244</TD><TD>C</TD><TD>T</TD><TD>[8]</TD></TR><TR><TD>15</TD><TD>446delT </TD><TD>D</TD><TD>446</TD><TD>T</TD><TD></TD><TD>[7]</TD></TR><TR><TD>16</TD><TD>447_448insT </TD><TD>I</TD><TD>447_448</TD><TD>TG</TD><TD>T</TD><TD>[9]</TD></TR><TR><TD>17</TD><TD>447delT </TD><TD>D</TD><TD>447</TD><TD>T</TD><TD></TD><TD>[10]</TD></TR><TR><TD>18</TD><TD>F153X </TD><TD>M</TD><TD>458</TD><TD>C</TD><TD>G</TD><TD>[11]</TD></TR><TR><TD>19</TD><TD>T176F </TD><TD>M</TD><TD>526</TD><TD>A</TD><TD>C</TD><TD>[4]</TD></TR><TR><TD>20</TD><TD>593delG </TD><TD>D</TD><TD>593</TD><TD>G</TD><TD></TD><TD>[12]</TD></TR><TR><TD>21</TD><TD>593delG </TD><TD>D</TD><TD>593</TD><TD>G</TD><TD></TD><TD>[13]</TD></TR><TR><TD>22</TD><TD>S198R </TD><TD>M</TD><TD>594</TD><TD>C</TD><TD>G</TD><TD>[14]</TD></TR><TR><TD>23</TD><TD>W210C </TD><TD>M</TD><TD>630</TD><TD>G</TD><TD>T</TD><TD>[15]</TD></TR><TR><TD>24</TD><TD>F212F </TD><TD>M</TD><TD>636</TD><TD>C</TD><TD>T</TD><TD>[16]</TD></TR><TR><TD>25</TD><TD>E223K </TD><TD>M</TD><TD>667</TD><TD>G</TD><TD>A</TD><TD>[7]</TD></TR><TR><TD>26</TD><TD>K227K </TD><TD>M</TD><TD>681</TD><TD>A</TD><TD>G</TD><TD>[4]</TD></TR><TR><TD>27</TD><TD>R265H </TD><TD>M</TD><TD>794</TD><TD>G</TD><TD>A</TD><TD>[17]</TD></TR><TR><TD>28</TD><TD>805_807delTGC </TD><TD>D</TD><TD>805_807</TD><TD>TGC</TD><TD></TD><TD>[11]</TD></TR><TR><TD>29</TD><TD>C269Y </TD><TD>M</TD><TD>806</TD><TD>G</TD><TD>A</TD><TD>[7]</TD></TR><TR><TD>30</TD><TD>R311X </TD><TD>M</TD><TD>931</TD><TD>C</TD><TD>T</TD><TD>[14]</TD></TR><TR><TD>31</TD><TD>R311Q </TD><TD>M</TD><TD>932</TD><TD>G</TD><TD>A</TD><TD>[17]</TD></TR><TR><TD>32</TD><TD>L319F </TD><TD>M</TD><TD>956</TD><TD>T</TD><TD>C</TD><TD>[18]</TD></TR><TR><TD>33</TD><TD>980_981insG </TD><TD>I</TD><TD>980_981</TD><TD>GG</TD><TD>G</TD><TD>[7]</TD></TR><TR><TD>34</TD><TD>982_983insG </TD><TD>I</TD><TD>982_983</TD><TD>GT</TD><TD>G</TD><TD>[19]</TD></TR><TR><TD>35</TD><TD>1010_1011insT </TD><TD>I</TD><TD>1010_1011</TD><TD>TT</TD><TD>T</TD><TD>[7]</TD></TR><TR><TD>36</TD><TD>R367H </TD><TD>M</TD><TD>1100</TD><TD>G</TD><TD>A</TD><TD>[4]</TD></TR><TR><TD>37</TD><TD>W425F </TD><TD>M</TD><TD>1274</TD><TD>G</TD><TD>C</TD><TD>[20]</TD></TR><TR><TD>38</TD><TD>W425S </TD><TD>M</TD><TD>1274</TD><TD>G</TD><TD>C</TD><TD>[1]</TD></TR><TR><TD>39</TD><TD>D427H </TD><TD>M</TD><TD>1279</TD><TD>G</TD><TD>C</TD><TD>[21]</TD></TR><TR><TD>40</TD><TD>R442C </TD><TD>M</TD><TD>1324</TD><TD>C</TD><TD>T</TD><TD>[17]</TD></TR><TR><TD>41</TD><TD>R442H </TD><TD>M</TD><TD>1325</TD><TD>G</TD><TD>A</TD><TD>[3]</TD></TR><TR><TD>42</TD><TD>1350_1354delCTGGG </TD><TD>D</TD><TD>1350_1354</TD><TD>CTGGG</TD><TD></TD><TD>[12]</TD></TR><TR><TD>43</TD><TD>1350_1354del5 </TD><TD>D</TD><TD>1350_1354</TD><TD>CTGGG</TD><TD></TD><TD>[5]</TD></TR><TR><TD>44</TD><TD>W475X </TD><TD>M</TD><TD>1425</TD><TD>G</TD><TD>A</TD><TD>[4]</TD></TR><TR><TD>45</TD><TD>R488G </TD><TD>M</TD><TD>1462</TD><TD>C</TD><TD>G</TD><TD>[18]</TD></TR><TR><TD>46</TD><TD>C490Y </TD><TD>M</TD><TD>1469</TD><TD>G</TD><TD>A</TD><TD>[1]</TD></TR><TR><TD>47</TD><TD>P493R </TD><TD>M</TD><TD>1478</TD><TD>C</TD><TD>G</TD><TD>[2]</TD></TR><TR><TD>48</TD><TD>V504L </TD><TD>M</TD><TD>1510</TD><TD>G</TD><TD>A</TD><TD>[22]</TD></TR><TR><TD>49</TD><TD>S550D </TD><TD>M</TD><TD>1649</TD><TD>G</TD><TD>A</TD><TD>[23]</TD></TR><TR><TD>50</TD><TD>S550N </TD><TD>M</TD><TD>1649</TD><TD>G</TD><TD>A</TD><TD>[2]</TD></TR><TR><TD>51</TD><TD>D556N </TD><TD>M</TD><TD>1666</TD><TD>G</TD><TD>A</TD><TD>[24]</TD></TR><TR><TD>52</TD><TD>1719delC </TD><TD>D</TD><TD>1719</TD><TD>C</TD><TD></TD><TD>[25]</TD></TR><TR><TD>53</TD><TD>1719delC </TD><TD>D</TD><TD>1719</TD><TD>C</TD><TD></TD><TD>[2]</TD></TR><TR><TD>54</TD><TD>R580X </TD><TD>M</TD><TD>1738</TD><TD>C</TD><TD>T</TD><TD>[13]</TD></TR><TR><TD>55</TD><TD>W590X </TD><TD>M</TD><TD>1769</TD><TD>G</TD><TD>A</TD><TD>[1]</TD></TR><TR><TD>56</TD><TD>R605H </TD><TD>M</TD><TD>1814</TD><TD>G</TD><TD>A</TD><TD>[13]</TD></TR><TR><TD>57</TD><TD>R605P </TD><TD>M</TD><TD>1814</TD><TD>G</TD><TD>C</TD><TD>[26]</TD></TR><TR><TD>58</TD><TD>1832delT </TD><TD>D</TD><TD>1832</TD><TD>T</TD><TD></TD><TD>[27]</TD></TR><TR><TD>59</TD><TD>1832delT </TD><TD>D</TD><TD>1832</TD><TD>T</TD><TD></TD><TD>[7]</TD></TR><TR><TD>60</TD><TD>1874delG </TD><TD>D</TD><TD>1874</TD><TD>G</TD><TD></TD><TD>[2]</TD></TR><TR><TD>61</TD><TD>1876delG </TD><TD>D</TD><TD>1876</TD><TD>G</TD><TD></TD><TD>[28]</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].  Lehesjoki (2004) Hum Genet 115 350</dd><dd>[2].  Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POM</dd><dd>[3].  Clinical spectrum of muscle-eye-brain disease: from the typical presentation to severe autistic feat</dd><dd>[4].  Godfrey 2007</dd><dd>[5].  NovelPOMGnT1mutationsdefinebroaderphenotypic spectrumofmuscle???ye???raindisease.Neurogenetics. 2007</dd><dd>[6].  dbSNP-rs34058684</dd><dd>[7].  Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.Hum Mol Genet. 2003</dd><dd>[8].  dbSNP-rs34212808</dd><dd>[9].  Longman 2004</dd><dd>[10].  Taniguchi 2003, Manya 2003</dd><dd>[11].  Manya 2008</dd><dd>[12].  Hehr 2007</dd><dd>[13].  Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease</dd><dd>[14].  POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clin</dd><dd>[15].  Bouchet 2007</dd><dd>[16].  Oliveira 2008</dd><dd>[17].  POMGnT1 gene alterations in a family with neurological abnormalities.Ann Neurol. 2004 Jul;56(1):143-</dd><dd>[18].  -</dd><dd>[19].  Taniguchi 2003, Manya 2003, Matsumoto 2005</dd><dd>[20].  Diesen 2004, Pascual-Castroviejo</dd><dd>[21].  Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease.Arch Neurol. 20</dd><dd>[22].  dbSNP-rs17102066</dd><dd>[23].  Yoshida 2001, Taniguchi 2003, Zhang 2003, Manya 2003, OMIM 0003</dd><dd>[24].  Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.Arch Neurol. 2008 Jan</dd><dd>[25].  Yoshida 2001, Manya 2003, (OMIM 0004)</dd><dd>[26].  An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and b</dd><dd>[27].  Taniguchi 2003, Manya 2003, (OMIM 0011)</dd><dd>[28].  Yoshida 2001, Zhang 2003, Manya 2003, (OMIM 0006)</dd></dl></div>