Abstract：
BACKGROUND: Dilated cardiomyopathy (DCM) is a cardiovascular disorder characterized by consecutive ventricular dilation and contractile dysfunction, often leading to congestive heart failure. DCM type 1Y (DCM1Y) is caused by a mutation in the TPM1 (tropomyosin 1) gene. To date, about thirty TPM1 gene mutations have been reported to be related to DCM1Y. However, mutational screening of the TPM1 gene is still far from being complete. Identification of TPM1 mutation is particularly important in the diagnosis of DCM1Y and will give more insights into the molecular pathogenesis of DCM1Y.
METHODS: A Chinese Han family with DCM phenotypes was examined.
METHODS: A novel missense mutation, c.340G > C in exon 3 of the TPM1 gene, was identified.
METHODS: Next-generation sequencing (NGS) of DNA samples was performed to detect the gene mutation in the proband, which was confirmed by Sanger sequencing.
RESULTS: This novel heterozygous mutation results in the substitution of glutamic acid with glutamine (p.E114Q). Based on this finding and clinical manifestations, a final diagnosis of DCM1Y was made.
CONCLUSIONS: We present evidence that p.E114Q mutation represents a novel TPM1 mutation in a Chinese Han family with DCM. Our data expand the mutation spectrum of the TPM1 gene and may facilitate the clinical diagnosis of DCM1Y.
METHODS: A Chinese Han family with DCM phenotypes was examined.
METHODS: A novel missense mutation, c.340G > C in exon 3 of the TPM1 gene, was identified.
METHODS: Next-generation sequencing (NGS) of DNA samples was performed to detect the gene mutation in the proband, which was confirmed by Sanger sequencing.
RESULTS: This novel heterozygous mutation results in the substitution of glutamic acid with glutamine (p.E114Q). Based on this finding and clinical manifestations, a final diagnosis of DCM1Y was made.
CONCLUSIONS: We present evidence that p.E114Q mutation represents a novel TPM1 mutation in a Chinese Han family with DCM. Our data expand the mutation spectrum of the TPM1 gene and may facilitate the clinical diagnosis of DCM1Y.
摘要：
背景：扩张型心肌病（DCM）是一种以连续心室扩张和收缩功能障碍为特征的心血管疾病，常导致充血性心力衰竭.DCM1Y型（DCM1Y）是由TPM1（原肌球蛋白1）基因突变引起的。迄今为止,据报道，约有30个TPM1基因突变与DCM1Y有关。然而,TPM1基因的突变筛选还远远没有完成。TPM1突变的鉴定在DCM1Y的诊断中尤为重要，并将为DCM1Y的分子发病机制提供更多见解。
方法：对一个DCM表型的中国汉族家族进行检测。
方法：一种新的错义突变，TPM1基因第3外显子c.340G>C,已确定。
方法：进行DNA样本的下一代测序（NGS）以检测先证者中的基因突变，Sanger测序证实了这一点。
结果：这种新的杂合突变导致谷氨酸被谷氨酰胺取代（p。E114Q).根据这一发现和临床表现，最终诊断为DCM1Y。
结论：我们提供的证据表明，p.E114Q突变代表了中国汉族DCM家族中的一个新的TPM1突变。我们的数据扩展了TPM1基因的突变谱，可能有助于DCM1Y的临床诊断。
方法：对一个DCM表型的中国汉族家族进行检测。
方法：一种新的错义突变，TPM1基因第3外显子c.340G>C,已确定。
方法：进行DNA样本的下一代测序（NGS）以检测先证者中的基因突变，Sanger测序证实了这一点。
结果：这种新的杂合突变导致谷氨酸被谷氨酰胺取代（p。E114Q).根据这一发现和临床表现，最终诊断为DCM1Y。
结论：我们提供的证据表明，p.E114Q突变代表了中国汉族DCM家族中的一个新的TPM1突变。我们的数据扩展了TPM1基因的突变谱，可能有助于DCM1Y的临床诊断。
