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Identification of the CFTR c.1666A>G Mutation in Hereditary Inclusion Body Myopathy Using Next-Generation Sequencing Analysis

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机构： [1]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China, [2]Beijing Advanced Innovation Center for Big Data-Based Precision Medicine, Beihang University, Beijing, China, [3]Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China, [4]School of Medical and Health Sciences, Edith Cowan University, Joondalup, WA, Australia, [5]Department of Neurology, Zhengzhou University People’s Hospital, Zhengzhou, China

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关键词： hereditary inclusion body myopathy next-generation sequencing CFTR mutation whole-exome sequencing

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Hereditary inclusion body myopathy (HIBM) is a rare autosomal recessive adult onset muscle disease which affects one to three individuals per million worldwide. This disease is autosomal dominant and occurs in adulthood. Our previous study reported a new subtype of HIBM linked to the susceptibility locus at 7q22.1-31.1. The present study is aimed to identify the candidate gene responsible for the phenotype in HIBM pedigree. After multipoint linkage analysis, we performed targeted capture sequencing on 16 members and whole-exome sequencing (WES) on 5 members. Bioinformatics filtering was performed to prioritize the candidate pathogenic gene variants, which were further genotyped by Sanger sequencing. Our results showed that the highest peak of LOD score (4.70) was on chromosome 7q22.1-31.1.We identified 2 and 22 candidates using targeted capture sequencing and WES respectively, only one of which as CFTRc.1666A >G mutation was well cosegregated with the HIBM phenotype. Using transcriptome analysis, we did not detect the differences of CFTR's mRNA expression in the proband compared with healthy members. Due to low incidence of HIBM and there is no other pedigree to assess, mutation was detected in three patients with duchenne muscular dystrophyn (DMD) and five patients with limb-girdle muscular dystrophy (LGMD). And we found that the frequency of mutation detected in DMD and LGMD patients was higher than that of being expected in normal population. We suggested that the CFTRc.1666A > G may be a candidate marker which has strong genetic linkage with the causative gene in the HIBM family.

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出版当年[2017]版：

大类 | 2 区医学

小类 | 3 区神经科学

最新[2023]版：

大类 | 3 区医学

小类 | 3 区神经科学

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出版当年[2016]版：

Q2 NEUROSCIENCES

最新[2023]版：

Q2 NEUROSCIENCES

影响因子： 3.2 最新[2023版] 4.3 最新五年平均 3.566 出版当年[2016版] 3.941 出版当年五年平均 3.398 出版前一年[2015版] 3.877 出版后一年[2017版]

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第一作者机构： [1]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China,

通讯作者：

通讯机构： [1]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China, [2]Beijing Advanced Innovation Center for Big Data-Based Precision Medicine, Beihang University, Beijing, China,

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