Variation p.R1045H in MYH7 correlated with hypertrophic cardiomyopathy in a Chinese pedigree

Abstract Objective: Inherited hypertrophic cardiomyopathy (HCM) is s a fatal disease that damages heart function and may cause the heart to stop beating suddenly. The genetic factors play an important role in HCM. Pedigree analysis is a good way to identify the genetic defects that cause disease. Methods: A HCM pedigree was found in Yunnan of China. Whole-exome sequencings were performed for finding the genetic variant of HCM. Another 30 HCM patients and 200 health controls were also used to investigate the frequency of variation by TaqMan-MGB method. Results: The variation NM_000257.4:c.3134G>A (NP_000248.2:p.Arg1045His, rs397516178, short as c.3134G>A) was found to co-segregate with the symptoms of HCM. Meanwhile, the variation was not found in 200 controls. After genotyping the variation in 30 HCM patients, one patient carried the variation and had a family history. Conclusion: Our findings support that this variation may be closely related to the occurrence of the disease. According the ACMG guideline, the c. 3134G>A should be classified as " Likely pathogenic".