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A novel phenotype with splicing mutation identified in a Chinese family with desminopathy

中国循环杂志 2018年第S1期33卷 123-124页

作者： Peng Fan Xueqi Dong Di Zhu Kunqi Yang Keqiang Liu Di Zhang Ying Zhang Xu Meng Huiqiong Tan Litian Yu Kefei Dou Yaxin Liu Chaoxia Lu Xue Zhang Xianliang Zhou National Center for Cardiovascular Diseases Fuwai HospitalCAMS and PUMCBeijingChina McKusick-Zhang Center for Genetic Medicine State Key Laboratory of Medical Molecular BiologyInstitute of Basic Medical SciencesCAMS and PUMCBeijingChina

Background and Objective desminopathy is a largely heterogeneous group of conditions involving inherited or sporadic myofibrillar *** terms of its mode of inheritance,the autosomal dominant form is *** gene(DES)mutations play a critical role among the pathogenic inherited factors associated with *** involves various phenotypes,mainly including different cardiomyopathies,skeletal myopathy and *** purposes of this study are characterization of a novel phenotype and identification of a DES splicing mutation in a Chinese family with desminnopathy.

关键词： Chinese family with desminopathy novel phenotype DES

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A novel phenotype with splicing mutation identified in a Chinese family with desminopathy

引用

Chinese Medical Journal 2019年第2期132卷 127-134页

作者： Peng Fan Chao-Xia Lu Xue-Qi Dong Di Zhu Kun-Qi Yang Ke-Qiang Liu Di Zhang Ying Zhang Xu Meng Hui-Qiong Tan Li-Tian YU Ke-Fei DOU Ya-Xin Liu Xue Zhang Xian-Liang Zhou Department of Cardiology Fuwai HospitalNational Center for Cardiovascular DiseasesChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100037China McKusick-Zhang Center for Genetic Medicine State Key Laboratory of Medical Molecular BiologyInstitute of Basic Medical SciencesChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100005China Emergency and Cdtical Care Center Fuwai HospitalNational Center for Cardiovascular DiseasesChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100037China

Background:desminopathy, a hereditary myofibrillar myopathy, mainly results from the desmin gene (DES) *** involves various phenotypes, mainly including different cardiomyopathies, skeletal myopathy, and *** with genotype, it helps us precisely diagnose and treat for ***:Sanger sequencing was used to characterize DES variation, and then a minigene assay was used to verify the effect of splice-site mutation on pre-mRNA *** were analyzed based on clinical characteristics associated with ***:A splicing mutation (c.735+1G>T) in DES was detected in the proband.A minigene assay revealed skipping of the whole exon 3 and transcription of abnormal pre-mRNA lacking 32 *** affected family member who carried the identical mutation, was identified with a novel phenotype of desminopathy, non-compaction of ventricular *** were 2 different phenotypes varied in cardiomyopathy and skeletal myopathy among the 2 patients, but no significant correlation between genotype and phenotype was ***:We reported a novel phenotype with a splicing mutation in DES, enlarging the spectrum of phenotype in *** studies of desminopathy should promote our understanding of its pathogenesis and provide a precise molecular diagnosis of this disorder, facilitating clinical prevention and treatment at an early stage.

关键词： desminopathy Cardiomyopathy Desmin gene Splicing mutation

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