Identification and genetic analysis of rare variants in myosin family genes in 412 Han Chinese congenital heart disease patients.

ABSTRACT:

Background

Myosin family genes, including those encoding myosin heavy chain 6, myosin heavy chain 7, myosin light chain 3, and myosin light chain 2 (MYL2), are important genetic factors in congenital heart disease (CHD). However, how these genes contribute to CHD in the Han Chinese population remains unclear.

Methods

We sequenced myosin family genes in a Han Chinese cohort comprising 412 CHD patients and 213 matched controls in the present study. A zebrafish model was used to evaluate the pathogenicity of rare mutations in MYL2.

Results

We identified 30 known mutations and 12 novel mutations. Furthermore, the contributions of two novel mutations, MYL2 p.Ile158Thr and p.Val146Met, to CHD were analyzed. The p.Ile158Thr mutation increased MYL2 expression. In zebrafish em

SUBMITTER: Zhang Y 

PROVIDER: S-EPMC9544220 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature