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

ABSTRACT:

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 f

SUBMITTER: Zhang Y 

PROVIDER: S-EPMC8325323 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature