Department of Neurology, University of Washington, Seattle, Washington, USA.
Neurology Section, VA Puget Sound Health Care System, Seattle, Washington, USA.
Muscle Nerve. 2018 May;57(5):859-862. doi: 10.1002/mus.26037. Epub 2017 Dec 28.
Mutations in gap junction protein beta 1 (GJB1) on the X chromosome represent one of the most common causes of hereditary neuropathy. We assessed manifestations associated with a rare 3' untranslated region mutation (UTR) of GJB1 in a large family with X-linked Charcot-Marie-Tooth disease (CMTX).
Clinical, electrophysiological, and molecular genetic analyses were performed on an 8-generation family with CMTX.
There were 22 affected males and 19 symptomatic females, including an 83-year-old woman followed for 40 years. Electrophysiological studies showed a primarily axonal neuropathy. The c.*15C>T mutation in the GJB1 3' UTR was identified in 4 branches of the family with a log of odds (LOD) of 4.91. This created a BstE II enzyme recognition site that enabled detection by restriction digestion.
The c.*15C>T mutation in the GJB1 3' UTR segregates with CMTX1 in 8 generations. Penetrance in males and females is essentially complete. A straightforward genetic method to detect this mutation is described. Muscle Nerve 57: 859-862, 2018.
X 染色体上间隙连接蛋白β 1（GJB1）的突变是遗传性周围神经病最常见的原因之一。我们评估了一个具有 X 连锁遗传性运动感觉神经病（CMTX）的大型家族中 GJB1 罕见 3'非翻译区（UTR）突变的相关表现。
对一个 8 代 CMTX 家族进行了临床、电生理和分子遗传学分析。
22 名受影响的男性和 19 名有症状的女性，包括一名 83 岁的女性，随访 40 年。电生理研究显示主要为轴索性神经病。在家族的 4 个分支中发现了 GJB1 3'UTR 的 c.*15C>T 突变，对数似然比（LOD）为 4.91。这创建了一个 BstE II 酶识别位点，使其能够通过限制消化检测到。
GJB1 3'UTR 的 c.*15C>T 突变与 8 代中的 CMTX1 分离。男性和女性的外显率基本完全。描述了一种简单的遗传方法来检测这种突变。肌肉神经 57: 859-862, 2018。
