Two Novel Variants of the CAPN3 Gene in Chinese Patients with Limb-Girdle Muscular Dystrophy Recessive 1.

IF 1.1 4区生物学 Q4 GENETICS & HEREDITY Human Heredity Pub Date : 2024-01-01 Epub Date: 2024-06-05 DOI:10.1159/000539521

Lulu Zhang, Yi Zhang, Chunru Han, Juean Jiang, Jianhua Jiang, Xiuying Cai, Liqiang Yu, Huan Qi, Qi Fang, Dongxue Ding

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Abstract

Introduction: Recessive mutations in the CAPN3 gene can lead to limb-girdle muscular dystrophy recessive 1 (LGMD R1). Targeted next-generation sequencing facilitates the discovery of new mutations linked with disease, owing to its ability to selectively enrich specific genomic regions.

Methods: We performed targeted next-generation sequencing of all exons of the CAPN3 gene in 4 patients with sporadic limb-girdle muscular dystrophy (LGMD) and further analyzed the effects of the novel identified variant using various software tools.

Results: We found 5 variants in CAPN3 gene in 4 patients, c.82_83insC (insertion mutation) and c.1115+2T>C (splicing mutation) are reported for the first time in CAPN3 (NM_000070.2). The bioinformatics analysis indicated that these two novel variants affected CAPN3 transcription as well as translation.

Discussion: Our findings reveal previously unreported splicing mutation and insertion mutation in CAPN3 gene, further expanding the pathogenic gene profile of LGMD.

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中国肢腰肌营养不良症隐性1型患者的两种CAPN3基因新变异。

导言 CAPN3基因的隐性突变可导致腰背肌营养不良症隐性1型（LGMD R1）。靶向性下一代测序能选择性地富集特定的基因组区域，因此有助于发现与疾病相关的新突变。方法我们对四名散发性 LGMD 患者的 CAPN3 基因的所有外显子进行了有针对性的新一代测序，并使用各种软件工具进一步分析了新发现变异的影响。结果我们在四名患者的 CAPN3 基因中发现了 5 个变异，其中 c.82_83insC（插入突变）和 c.1115+2T>C（剪接突变）是首次在 CAPN3 (NM_000070.2) 中发现。生物信息学分析表明，这两个新变异影响了 CAPN3 的转录和翻译。讨论我们的发现揭示了 CAPN3 基因中以前未报道的剪接突变和插入突变，进一步扩大了 LGMD 的致病基因谱。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Human Heredity 生物-遗传学

CiteScore

2.50

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Gathering original research reports and short communications from all over the world, ''Human Heredity'' is devoted to methodological and applied research on the genetics of human populations, association and linkage analysis, genetic mechanisms of disease, and new methods for statistical genetics, for example, analysis of rare variants and results from next generation sequencing. The value of this information to many branches of medicine is shown by the number of citations the journal receives in fields ranging from immunology and hematology to epidemiology and public health planning, and the fact that at least 50% of all ''Human Heredity'' papers are still cited more than 8 years after publication (according to ISI Journal Citation Reports). Special issues on methodological topics (such as ‘Consanguinity and Genomics’ in 2014; ‘Analyzing Rare Variants in Complex Diseases’ in 2012) or reviews of advances in particular fields (‘Genetic Diversity in European Populations: Evolutionary Evidence and Medical Implications’ in 2014; ‘Genes and the Environment in Obesity’ in 2013) are published every year. Renowned experts in the field are invited to contribute to these special issues.