Department of Magnetic Resonance Imaging, The First People's Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, Yunnan Province, China.
Department of Cardiology, The First People's Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, No. 157 Jinbi Road, Kunming, 650032, Yunnan Province, China.
BMC Med Genomics. 2021 Jul 30;14(1):196. doi: 10.1186/s12920-021-01046-2.
Inherited hypertrophic cardiomyopathy (HCM) is a common heart muscle disease that damages heart function and may cause the heart to suddenly stop beating. Genetic factors play an important role in HCM. Pedigree analysis is a good way to identify the genetic defects that cause disease.
An HCM pedigree was determined in Yunnan, China. Whole-exome sequencing was performed to identify the genetic variants of HCM. Another 30 HCM patients and 200 healthy controls were also used to investigate the frequency of the variants by customized TaqMan genotyping assay.
The variant NM_000257.4:c.3134G > A (NP_000248.2:p.Arg1045His, rs397516178, c.3134G > A in short) was found to cosegregate with the clinical phenotype of HCM. Moreover, the variant was not found in the 200 control subjects. After genotyping the variant in 30 HCM patients, there was one patient who carried the variant and had a family history.
Our findings suggest that this variant may be closely related to the occurrence of the disease. According the ACMG guidelines, the c.3134G > A variant should be classified as "Likely pathogenic".
遗传性肥厚型心肌病（HCM）是一种常见的心肌疾病，会损害心脏功能，并可能导致心脏突然停止跳动。遗传因素在 HCM 中起着重要作用。家系分析是识别导致疾病的遗传缺陷的好方法。
在中国云南确定了一个 HCM 家系。进行全外显子组测序以鉴定 HCM 的遗传变异。还使用另外 30 名 HCM 患者和 200 名健康对照者通过定制 TaqMan 基因分型检测来调查变异的频率。
发现变异 NM_000257.4:c.3134G > A（NP_000248.2:p.Arg1045His，rs397516178，c.3134G > A 简写）与 HCM 的临床表型共分离。此外，该变异在 200 名对照者中未发现。对 30 名 HCM 患者的变异进行基因分型后，有一名患者携带该变异且有家族史。
我们的研究结果表明，该变异可能与疾病的发生密切相关。根据 ACMG 指南，c.3134G > A 变异应归类为“可能致病性”。
