A TNNI2 mutation in a family with distal arthrogryposis type 2B
A TNNI2 mutation in a family with distal arthrogryposis type 2B
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DOI：
10.1016/j.ejmg.2005.06.003
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发表时间：
2006-03-01
影响因子：
1.9
通讯作者：
Hoo, JJ
中科院分区：
文献类型：
--
作者：
Shrimpton, AE;Hoo, JJ
在一个三代家庭与远端arthrogriposis（DA）的表型DA2A和DA1之间的中间连锁映射表示连锁11p15.5，但不是9p13。TNNI2基因的后续DNA测序检测到三个碱基对缺失，预测其将导致密码子位置167处的谷氨酸缺失（Δ E167）。这种突变，像两个先前描述的TNNI2突变，位于羧基末端结构域，因此支持存在一个TNNI2的关键区域敏感的改变，将引起DA。家庭成员的体检证实了高度的变异性之间的表达突变载体。(c)2005年，Elsevier SAS。All rights reserved.
Linkage mapping in a three-generation family with a distal arthrogryposis (DA) phenotype intermediate between DA2A and DA1 indicated linkage to 11p15.5 but not 9p13. Follow up DNA sequencing of the TNNI2 gene detected a three base pair deletion that would be predicted to result in the deletion of a glutamic acid at codon position 167 (Delta E167). This mutation, like the two previously described TNNI2 mutations, is located in the carboxy-terminal domain and thus supports the existence of a TNNI2 critical region sensitive to alteration that will give rise to DA. Physical examination of family members confirms the high degree of variability in expression amongst mutation carriers. (c) 2005 Elsevier SAS. All rights reserved.