一个与土耳其肌阵挛性肌张力障碍家系中显著的家族内变异性相关的新型无义变异体。
A Novel Nonsense Variant Associated With Marked Intrafamilial Variability in a Turkish Family With Myoclonus-Dystonia.
作者信息
Gultekin Murat, Prakash Neha, Ganos Christos, Mirza Meral, Bayramov Ruslan, Bhatia Kailash P, Mencacci Niccolò E
机构信息
Department of Neurology Erciyes University Faculty of Medicine Kayseri Turkey.
Department of Neurology Northwestern University Feinberg School of Medicine Chicago Illinois USA.
出版信息
Mov Disord Clin Pract. 2019 Jul 17;6(6):479-482. doi: 10.1002/mdc3.12805. eCollection 2019 Jul.
BACKGROUND
Myoclonus-Dystonia syndrome (M-D) is an autosomal-dominant movement disorder related to gene pathogenic variants. Although there can be observed variability in clinical findings, here we describe intrafamilial variability in a Turkish family with a novel nonsense pathogenic variant.
METHODS
A family with variable clinical symptoms resembling M-D were referred to our clinic. After preliminary diagnosis, patients were tested for mutations in the gene by Sanger sequencing.
RESULTS
Novel pathogenic heterozygous nonsense mutation in exon 3, c.272T>G; p.Leu91* (NM_003919.2) were observed in affected family members.
CONCLUSION
Intrafamilial clinical variability, despite the same pathogenic variant described in this work, suggests that there are regulatory factors, epigenetic or environmental modifiers, which are the subject of a matter for future studies.
背景
肌阵挛性肌张力障碍综合征（M-D）是一种与基因致病性变异相关的常染色体显性运动障碍。尽管临床发现存在变异性，但在此我们描述了一个具有新型无义致病性变异的土耳其家族中的家族内变异性。
方法
一个具有类似M-D可变临床症状的家族被转诊至我们的诊所。初步诊断后，通过桑格测序对患者进行该基因的突变检测。
结果
在受影响的家族成员中观察到外显子3中的新型致病性杂合无义突变，c.272T>G；p.Leu91*（NM_003919.2）。
结论
尽管本研究中描述的致病性变异相同，但家族内临床变异性表明存在调节因子、表观遗传或环境修饰因子，这是未来研究的主题。
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