肌营养不良蛋白外显子29无义突变导致不同程度的轻度表型。
Dystrophin Exon 29 Nonsense Mutations Cause a Variably Mild Phenotype.
作者信息
Moore Rebecca S, Tirupathi Sandya, Herron Brian, Sands Andrew, Morrison Patrick J
机构信息
Clinical Genetics Department, Belfast City Hospital, 51 Lisburn Road, Belfast, Northern Ireland BT9 7AB.
Paediatric Neurology, Royal Belfast Hospital for Sick Children, 274 Grosvenor Road, Belfast, Northern Ireland BT12 6BA.
出版信息
Ulster Med J. 2017 Sep;86(3):185-188. Epub 2017 Sep 12.
BACKGROUND
Nonsense mutations in the dystrophin gene usually result in a severe Duchenne muscular dystrophy phenotype.
FINDINGS
We describe a 7-year-old boy with a rare pathogenic mutation in exon 29 c.3940C>T p.(Arg1314Ter) resulting in exon skipping, in turn rescuing the phenotype from a severe Duchenne type to a milder Becker muscular dystrophy type. No adults have been described with this mutation to date.
CONCLUSIONS
Exon skipping of exon 29 results in a higher level of functional dystrophin. Some cases of muscular dystrophy may still require muscle biopsy to determine optimal management and pharmaceutical treatment options.
背景
肌营养不良蛋白基因中的无义突变通常会导致严重的杜氏肌营养不良症表型。
研究结果
我们描述了一名7岁男孩，其29号外显子存在罕见的致病突变c.3940C>T p.(Arg1314Ter)，导致外显子跳跃，进而使表型从严重的杜氏型转变为较轻的贝克型肌营养不良症。迄今为止，尚未有成人携带此突变的报道。
结论
29号外显子的外显子跳跃导致功能性肌营养不良蛋白水平升高。一些肌营养不良症病例可能仍需要进行肌肉活检，以确定最佳的管理和药物治疗方案。
Zotero 插件