GNE 肌病由导致异常 mRNA 剪接的同义突变引起。
GNE myopathy caused by a synonymous mutation leading to aberrant mRNA splicing.
机构信息
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo 187-8502, Japan; Department of Genome Medicine Development, Medical Genome Center (MGC), National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo 187-8502, Japan; Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.
Department of Neurology, Osaka University Graduate School of Medicine, D-4, 2-2 Yamadaoka, Suita, Osaka 565-0871, Japan; Department of Neurology, Higashiosaka City Medical Center, 3-4-5 Nishi-iwata, Higashiosaka, Osaka, 578-8588, Japan.
出版信息
Neuromuscul Disord. 2018 Feb;28(2):154-157. doi: 10.1016/j.nmd.2017.11.003. Epub 2017 Nov 22.
GNE myopathy is a rare autosomal recessive myopathy caused by bi-allelic mutations in GNE. We report the case of a 36-year-old man who presented with typical clinical and pathological features of GNE myopathy including distal dominant muscle weakness from the age of 29 and numerous rimmed vacuoles on muscle biopsy. Targeted next-generation sequencing revealed a novel synonymous mutation, c.1500A>G (p.G500=), together with a common Japanese mutation c.620A>T (p.D207V). The cDNA analysis of the biopsied muscle revealed that this synonymous mutation creates a cryptic splice donor site that causes aberrant splicing. This report will expand our understanding of the genetic heterogeneity of GNE myopathy emphasizing the importance of interpreting synonymous variants in genetic testing.
GNE 肌病是一种罕见的常染色体隐性肌病，由 GNE 的双等位基因突变引起。我们报告了一例 36 岁男性患者，其具有 GNE 肌病的典型临床和病理特征，包括从 29 岁开始出现的远端优势肌无力和肌肉活检上大量边缘空泡。靶向下一代测序显示了一种新的同义突变 c.1500A>G(p.G500=)，以及一种常见的日本突变 c.620A>T(p.D207V)。活检肌肉的 cDNA 分析显示，该同义突变创建了一个隐蔽的剪接供体位点，导致异常剪接。本报告将扩展我们对 GNE 肌病遗传异质性的认识，强调在基因检测中解释同义变异的重要性。
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