Key result
The MYH7 c.3134G > A (p.Arg1045His) variant cosegregated with hypertrophic cardiomyopathy in a Chinese pedigree and was absent in 200 healthy controls, supporting a likely pathogenic classification.
Why the study?
Genetic factors play an important role in inherited HCM, and pedigree analysis can help identify causative genetic defects.
Does the variation p.R1045H in MYH7 correlate with hypertrophic cardiomyopathy in a Chinese pedigree?
Observational (n=234)
Does the variation p.R1045H in MYH7 correlate with hypertrophic cardiomyopathy in a Chinese pedigree?
The MYH7 p.R1045H variant cosegregates with hypertrophic cardiomyopathy in a Chinese pedigree and is classified as 'Likely pathogenic' according to ACMG guidelines, aiding in early genetic diagnosis.
May support early genetic diagnosis in similar Chinese HCM families; leaves open broader validation across populations.
BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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".
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Zhang et al. (2021) conducted an observational in Hypertrophic cardiomyopathy (n=234). MYH7 c.3134G > A (p.Arg1045His) variant vs. Absence of variant was evaluated on Cosegregation of the variant with HCM phenotype and frequency in controls. The MYH7 c.3134G > A (p.Arg1045His) variant cosegregated with hypertrophic cardiomyopathy in a Chinese pedigree and was absent in 200 healthy controls, supporting a likely pathogenic classification.
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