CHRNE基因的内含子碱基改变导致先天性肌无力综合征。

An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome.

作者信息

Müller J S, Stucka R, Neudecker S, Zierz S, Schmidt C, Huebner A, Lochmüller H, Abicht A

机构信息

Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany.

出版信息

Neurology. 2005 Aug 9;65(3):463-5. doi: 10.1212/01.wnl.0000172346.26219.fd.

DOI:10.1212/01.wnl.0000172346.26219.fd

PMID:16087917

Abstract

Reported is a patient with a congenital myasthenic syndrome due to two compound heterozygous mutations of the CHRNE gene. The molecular consequences of a novel intronic base alteration (CHRNE IVS5-16GA) remote from the splice acceptor site were investigated in vivo and in vitro. In conclusion, RNA analysis may be necessary to reveal unexpected splicing aberrations due to intronic mutations that are not part of the consensus splice site.

摘要

报告了一名因CHRNE基因的两个复合杂合突变而患有先天性肌无力综合征的患者。对一个远离剪接受体位点的新型内含子碱基改变（CHRNE IVS5-16G>A）的分子后果进行了体内和体外研究。总之，RNA分析可能有必要揭示由于不属于共有剪接位点一部分的内含子突变而导致的意外剪接异常。