一个导致层粘连蛋白病并伴有主动脉瓣畸形的 LMNA 剪接突变。
A splicing LMNA mutation causing laminopathies accompanied by aortic valve malformation.
机构信息
Division of Cardiology, Department of Internal Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Hubei Key Laboratory of Genetics and Molecular Mechanism of Cardiological Disorders, Huazhong University of Science and Technology, Wuhan, China.
出版信息
J Clin Lab Anal. 2021 Apr;35(4):e23736. doi: 10.1002/jcla.23736. Epub 2021 Feb 24.
BACKGROUND
Laminopathies caused by LMNA gene mutations are characterized by different clinical manifestations. Among them, cardiac involvement is one of the most severe phenotypes.
CASE PRESENTATION
A 30-year-old man visited the hospital because of palpitations, shortness of breath, and fatigue. He also had muscular dystrophy, joint contractures, scoliosis, and mild dysphagia. A novel de novo heterozygous LMNA splice variant (c.810+1G>T) with dilated cardiomyopathy, Emery-Dreifuss muscular dystrophy, and progressive cardiac conduction defect was identified by genetic analysis. The patient also presented with congenital aortic valve malformation, which has never been reported in laminopathies.
CONCLUSIONS
The LMNA mutation (c.810+1G>T) was identified for the first time, enriching the mutation spectrum of the LMNA gene. The correlation between an LMNA mutation and congenital aortic valve malformation deserves further study.
背景
由 LMNA 基因突变引起的层粘连蛋白病具有不同的临床表现。其中，心脏受累是最严重的表型之一。
病例介绍
一名 30 岁男性因心悸、呼吸急促和疲劳就诊。他还患有肌肉营养不良症、关节挛缩、脊柱侧凸和轻度吞咽困难。通过基因分析，发现了一种新型的从头杂合 LMNA 剪接变异体（c.810+1G>T），伴有扩张型心肌病、Emery-Dreifuss 肌肉营养不良症和进行性心脏传导缺陷。该患者还患有先天性主动脉瓣畸形，在层粘连蛋白病中从未有过报道。
结论
首次鉴定出 LMNA 突变（c.810+1G>T），丰富了 LMNA 基因突变谱。LMNA 突变与先天性主动脉瓣畸形之间的相关性值得进一步研究。
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