Ressot C, Latour P, Blanquet-Grossard F, Sturtz F, Duthel S, Battin J, Corbillon E, Ollagnon E, Serville F, Vandenberghe A, Dautigny A, Pham-Dinh D
Laboratoire de Neurogénétique Moléculaire, URA 1488 CNRS, Université de Paris VI, France.
Hum Genet. 1996 Aug;98(2):172-5. doi: 10.1007/s004390050183.
X-linked dominant Charcot-Marie-Tooth (CMTX) neuropathy has been mapped to the Xq13 region. Subsequently, several mutations that could account for CMTX have been detected in the coding part of the connexin32 (Cx32) gene, which is located within this region. In order to develop more specific diagnostic tools, we have begun a systematic screening of families with dominant CMTX for mutations in the coding region of the Cx32 gene. This report describes a study of ten families and different mutations segregating with the disease were detected in five of them. In addition to the previously reported Arg22stop and Arg215Trp substitutions, three novel mutations are described, including two different missense mutations at codon Arg22 (Arg22Pro and Arg22Gly), and a nonsense mutation at codon Trp133. The identification of new CMTX-causing mutations is a critical step for carrier detection and presymptomatic diagnosis, and should provide essential information on the structure-function relationship of Cx32 in vitro as well as in vivo.
X连锁显性遗传性夏科-马里-图斯（CMTX）神经病已被定位于Xq13区域。随后，在位于该区域内的连接蛋白32（Cx32）基因的编码部分检测到了几种可能导致CMTX的突变。为了开发更具特异性的诊断工具，我们已开始对显性CMTX家族进行Cx32基因编码区突变的系统筛查。本报告描述了对10个家族的研究，其中5个家族检测到与疾病共分离的不同突变。除了先前报道的Arg22stop和Arg215Trp替代突变外，还描述了3种新突变，包括密码子Arg22处的2种不同错义突变（Arg22Pro和Arg22Gly）以及密码子Trp133处的1种无义突变。鉴定新的导致CMTX的突变是携带者检测和症状前诊断的关键步骤，并且应该为体外和体内Cx32的结构-功能关系提供重要信息。
