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单基因遗传病：肛门闭锁伴手足及耳畸形综合征

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导读	<P>中文名称：肛门闭锁伴手足及耳畸形综合征</P><P>英文名称：Townes-Brocks Syndrome; Tbs </P><P>OMIM号： 107480 </P><P>所属系统：耳,鼻,喉</P><P>遗传方式：AD</P><DIV clas...

中文名称：肛门闭锁伴手足及耳畸形综合征英文名称：Townes-Brocks Syndrome; Tbs OMIM号： 107480 所属系统：耳,鼻,喉遗传方式：AD<DIV class=hdwiki_tmml>疾病简介</DIV>肛门闭锁伴手足及耳畸形综合征是一种遗传疾病,影响身体的几个部分。这种情况最常表现为肛门口阻塞（肛门闭锁）,耳型异常,手畸形且最常见是拇指畸形。患此疾病的大多数人至少有这三个主要特点的其中两个。<DIV class=hdwiki_tmml>相关基因突变信息</DIV><DIV>基因名称：SALL1  参考序列：NM_002968 染色体位置：16q12.1 </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>312delA </TD><TD>D</TD><TD>312</TD><TD>A</TD><TD></TD><TD>[1]</TD></TR><TR><TD>2</TD><TD>420delC </TD><TD>D</TD><TD>420</TD><TD>C</TD><TD></TD><TD>[2]</TD></TR><TR><TD>3</TD><TD>764delT </TD><TD>D</TD><TD>764</TD><TD>T</TD><TD></TD><TD>[3]</TD></TR><TR><TD>4</TD><TD>Q260X </TD><TD>M</TD><TD>778</TD><TD>C</TD><TD>T</TD><TD>[4]</TD></TR><TR><TD>5</TD><TD>792_793delGC </TD><TD>D</TD><TD>792_793</TD><TD>GC</TD><TD></TD><TD>[5]</TD></TR><TR><TD>6</TD><TD>Q272X </TD><TD>M</TD><TD>814</TD><TD>C</TD><TD>T</TD><TD>[1]</TD></TR><TR><TD>7</TD><TD>818delG </TD><TD>D</TD><TD>818</TD><TD>G</TD><TD></TD><TD>[6]</TD></TR><TR><TD>8</TD><TD>R276X </TD><TD>M</TD><TD>826</TD><TD>C</TD><TD>T</TD><TD>[2]</TD></TR><TR><TD>9</TD><TD>842delC </TD><TD>D</TD><TD>842</TD><TD>C</TD><TD></TD><TD>[5]</TD></TR><TR><TD>10</TD><TD>Q301X </TD><TD>M</TD><TD>901</TD><TD>C</TD><TD>T</TD><TD>[7]</TD></TR><TR><TD>11</TD><TD>K314X </TD><TD>M</TD><TD>940</TD><TD>A</TD><TD>T</TD><TD>[3]</TD></TR><TR><TD>12</TD><TD>Q323X </TD><TD>M</TD><TD>967</TD><TD>C</TD><TD>T</TD><TD>[8]</TD></TR><TR><TD>13</TD><TD>995delC </TD><TD>D</TD><TD>995</TD><TD>C</TD><TD></TD><TD>[1]</TD></TR><TR><TD>14</TD><TD>995delC </TD><TD>D</TD><TD>995</TD><TD>C</TD><TD></TD><TD>[9]</TD></TR><TR><TD>15</TD><TD>1028_1029delTA </TD><TD>D</TD><TD>1028_1029</TD><TD>TA</TD><TD></TD><TD>[3]</TD></TR><TR><TD>16</TD><TD>1045_1046insA </TD><TD>I</TD><TD>1045_1046</TD><TD>AC</TD><TD>A</TD><TD>[7]</TD></TR><TR><TD>17</TD><TD>1046_1047insC </TD><TD>I</TD><TD>1046_1047</TD><TD>CC</TD><TD>C</TD><TD>[1]</TD></TR><TR><TD>18</TD><TD>1063_1064insA </TD><TD>I</TD><TD>1063_1064</TD><TD>AA</TD><TD>A</TD><TD>[1]</TD></TR><TR><TD>19</TD><TD>1084_1085delGC </TD><TD>D</TD><TD>1084_1085</TD><TD>GC</TD><TD></TD><TD>[7]</TD></TR><TR><TD>20</TD><TD>S371X </TD><TD>M</TD><TD>1112</TD><TD>C</TD><TD>G</TD><TD>[10]</TD></TR><TR><TD>21</TD><TD>S372X </TD><TD>M</TD><TD>1115</TD><TD>C</TD><TD>G</TD><TD>[2]</TD></TR><TR><TD>22</TD><TD>S372X </TD><TD>M</TD><TD>1115</TD><TD>C</TD><TD>A</TD><TD>[11]</TD></TR><TR><TD>23</TD><TD>1124delC </TD><TD>D</TD><TD>1124</TD><TD>C</TD><TD></TD><TD>[3]</TD></TR><TR><TD>24</TD><TD>1133delT </TD><TD>D</TD><TD>1133</TD><TD>T</TD><TD></TD><TD>[1]</TD></TR><TR><TD>25</TD><TD>1145_1146insTA </TD><TD>I</TD><TD>1145_1146</TD><TD>GT</TD><TD>TA</TD><TD>[3]</TD></TR><TR><TD>26</TD><TD>1147delT </TD><TD>D</TD><TD>1147</TD><TD>T</TD><TD></TD><TD>[2]</TD></TR><TR><TD>27</TD><TD>1174_1175delCT </TD><TD>D</TD><TD>1174_1175</TD><TD>CT</TD><TD></TD><TD>[1]</TD></TR><TR><TD>28</TD><TD>1200_1206del7 </TD><TD>D</TD><TD>1200_1206</TD><TD>GGTTTTC</TD><TD></TD><TD>[2]</TD></TR><TR><TD>29</TD><TD>G410X </TD><TD>M</TD><TD>1228</TD><TD>G</TD><TD>T</TD><TD>[1]</TD></TR><TR><TD>30</TD><TD>1256delT </TD><TD>D</TD><TD>1256</TD><TD>T</TD><TD></TD><TD>[4]</TD></TR><TR><TD>31</TD><TD>L419X </TD><TD>M</TD><TD>1256</TD><TD>T</TD><TD>A</TD><TD>[12]</TD></TR><TR><TD>32</TD><TD>1263delC </TD><TD>D</TD><TD>1263</TD><TD>C</TD><TD></TD><TD>[3]</TD></TR><TR><TD>33</TD><TD>1268delC </TD><TD>D</TD><TD>1268</TD><TD>C</TD><TD></TD><TD>[2]</TD></TR><TR><TD>34</TD><TD>1269delC </TD><TD>D</TD><TD>1269</TD><TD>C</TD><TD></TD><TD>[11]</TD></TR><TR><TD>35</TD><TD>1273delC </TD><TD>D</TD><TD>1273</TD><TD>C</TD><TD></TD><TD>[1]</TD></TR><TR><TD>36</TD><TD>1277_1278delGA </TD><TD>D</TD><TD>1277_1278</TD><TD>GA</TD><TD></TD><TD>[13]</TD></TR><TR><TD>37</TD><TD>1291_1300del10 </TD><TD>D</TD><TD>1291_1300</TD><TD>CCAAATGTCA</TD><TD></TD><TD>[13]</TD></TR><TR><TD>38</TD><TD>1321_1322insA </TD><TD>I</TD><TD>1321_1322</TD><TD>AC</TD><TD>A</TD><TD>[3]</TD></TR><TR><TD>39</TD><TD>1327delG </TD><TD>D</TD><TD>1327</TD><TD>G</TD><TD></TD><TD>[3]</TD></TR><TR><TD>40</TD><TD>1347_1348delCA </TD><TD>D</TD><TD>1347_1348</TD><TD>CA</TD><TD></TD><TD>[14]</TD></TR><TR><TD>41</TD><TD>1373delT </TD><TD>D</TD><TD>1373</TD><TD>T</TD><TD></TD><TD>[3]</TD></TR><TR><TD>42</TD><TD>1404_1405insG </TD><TD>I</TD><TD>1404_1405</TD><TD>GC</TD><TD>G</TD><TD>[15]</TD></TR><TR><TD>43</TD><TD>1412_1413insA </TD><TD>I</TD><TD>1412_1413</TD><TD>AT</TD><TD>A</TD><TD>[14]</TD></TR><TR><TD>44</TD><TD>1415_1425del11 </TD><TD>D</TD><TD>1415_1425</TD><TD>CCGGAGAGAGG</TD><TD></TD><TD>[7]</TD></TR><TR><TD>45</TD><TD>1479_1480insAG </TD><TD>I</TD><TD>1479_1480</TD><TD>AG</TD><TD>AG</TD><TD>[14]</TD></TR><TR><TD>46</TD><TD>1503_1504delGA </TD><TD>D</TD><TD>1503_1504</TD><TD>GA</TD><TD></TD><TD>[1]</TD></TR><TR><TD>47</TD><TD>Y503X </TD><TD>M</TD><TD>1509</TD><TD>C</TD><TD>A</TD><TD>[15]</TD></TR><TR><TD>48</TD><TD>1515_1516insAT </TD><TD>I</TD><TD>1515_1516</TD><TD>TA</TD><TD>AT</TD><TD>[1]</TD></TR><TR><TD>49</TD><TD>E515X </TD><TD>M</TD><TD>1543</TD><TD>G</TD><TD>T</TD><TD>[3]</TD></TR><TR><TD>50</TD><TD>1565delC </TD><TD>D</TD><TD>1565</TD><TD>C</TD><TD></TD><TD>[14]</TD></TR><TR><TD>51</TD><TD>1820delG </TD><TD>D</TD><TD>1820</TD><TD>G</TD><TD></TD><TD>[16]</TD></TR><TR><TD>52</TD><TD>1966_1975del10 </TD><TD>D</TD><TD>1966_1975</TD><TD>ACCACCTTCA</TD><TD></TD><TD>[14]</TD></TR><TR><TD>53</TD><TD>2256delC </TD><TD>D</TD><TD>2256</TD><TD>C</TD><TD></TD><TD>[1]</TD></TR><TR><TD>54</TD><TD>Q927X </TD><TD>M</TD><TD>2779</TD><TD>C</TD><TD>T</TD><TD>[17]</TD></TR><TR><TD>55</TD><TD>3032_3033ins14 </TD><TD>I</TD><TD>3032_3033</TD><TD>CT</TD><TD>GGCAAAACAT</TD><TD>[1]</TD></TR><TR><TD>56</TD><TD>3249_3255del7 </TD><TD>D</TD><TD>3249_3255</TD><TD>TCTCATC</TD><TD></TD><TD>[1]</TD></TR><TR><TD>57</TD><TD>3414_3415delAT </TD><TD>D</TD><TD>3414_3415</TD><TD>AT</TD><TD></TD><TD>[18]</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].  Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement o</dd><dd>[2].  Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.</dd><dd>[3].  SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the pheno</dd><dd>[4].  Kohlhase (2000) Hum Genet 107 533</dd><dd>[5].  Kohlhase (1999) Hum Genet 104 360</dd><dd>[6].  Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene.</dd><dd>[7].  SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvi</dd><dd>[8].  Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation.</dd><dd>[9].  Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3.</dd><dd>[10].  Somatic mosaicism for the SALL1 mutation p.Ser371X in full-blown Townes-Brocks syndrome with Duane a</dd><dd>[11].  Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.</dd><dd>[12].  Wide phenotypic variations within a family with SALL1 mutations: isolated external ear abnormalities</dd><dd>[13].  Kohlhase (1999) Am J Hum Genet 64, 435</dd><dd>[14].  Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in</dd><dd>[15].  Kohlhase (1999) Hum Genet 105 372</dd><dd>[16].  Kohlhase (1999) Hum Genet 105 373</dd><dd>[17].  Mosaic trisomy 8 and Townes-Brocks syndrome due to a novel SALL1 mutation in the same patient.</dd><dd>[18].  Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3</dd></dl></div>