title: Novel 6-bp deletion in MEF2A linked to premature coronary artery disease in a large Chinese family.
abstract: The aim of the present study was to identify the genetic defect responsible for familial coronary artery disease/myocardial infarction (CAD/MI), which exhibited an autosomal dominant pattern of inheritance, in an extended Chinese Han pedigree containing 34 members. Using exome and Sanger sequencing, a novel 6‑base pair (bp) 'CAGCCG' deletion in exon 11 of the myocyte enhancer factor 2A (MEF2A) gene was identified, which cosegregated with CAD/MI cases in this family. This 6‑bp deletion was not detected in 311 sporadic cases of premature CAD/MI or in 323 unrelated healthy controls. Determination of a genetic risk profile has a key role in understanding the pathogenesis of CAD and MI. Among the reported risk‑conferring genes and their variants, mutations in MEF2A have been reported to segregate with CAD/MI in Caucasian families. Causative missense mutations have also been detected in sporadic CAD/MI cases. However, this suggested genetic linkage is controversial, since it could not be confirmed by ensuing studies. The discovery of a novel MEF2A mutation in a Chinese family with premature CAD/MI suggests that MEF2A may have a significant role in the pathogenesis of premature CAD/MI. To better understand this association, further in vitro and in vivo studies are required.
authors.affiliation: Department of Cardiology, The Second Hospital of Shandong University, Jinan, Shandong 250012, P.R. China.
authors.forename: Dong-Ling
authors.initials: DL
authors.lastname: Xu
authors.affiliation: Key Laboratory of Cardiovascular Remodeling and Function Research, Chinese Ministry of Education and Chinese Ministry of Public Health, Qilu Hospital of Shandong University, Jinan, Shandong 250012, P.R. China.
authors.forename: Hong-Liang
authors.initials: HL
authors.lastname: Tian
authors.affiliation: Department of Cardiology, The Third Hospital of Jinan, Jinan, Shandong 250021, P.R. China.
authors.forename: Wei-Li
authors.initials: WL
authors.lastname: Cai
authors.affiliation: Department of Cardiology, The Second Hospital of Shandong University, Jinan, Shandong 250012, P.R. China.
authors.forename: Jie
authors.initials: J
authors.lastname: Zheng
authors.affiliation: Department of Cardiology, The Second Hospital of Shandong University, Jinan, Shandong 250012, P.R. China.
authors.forename: Min
authors.initials: M
authors.lastname: Gao
authors.affiliation: Key Laboratory of Cardiovascular Remodeling and Function Research, Chinese Ministry of Education and Chinese Ministry of Public Health, Qilu Hospital of Shandong University, Jinan, Shandong 250012, P.R. China.
authors.forename: Ming-Xiang
authors.initials: MX
authors.lastname: Zhang
authors.affiliation: Key Laboratory of Cardiovascular Remodeling and Function Research, Chinese Ministry of Education and Chinese Ministry of Public Health, Qilu Hospital of Shandong University, Jinan, Shandong 250012, P.R. China.
authors.forename: Zhao-Tong
authors.initials: ZT
authors.lastname: Zheng
authors.affiliation: Department of Cardiology, The Second Hospital of Shandong University, Jinan, Shandong 250012, P.R. China.
authors.forename: Qing-Hua
authors.initials: QH
authors.lastname: Lu
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D044466:Asian People; D015415:Biomarkers; D002648:Child; D002681:China; D002874:Chromosome Mapping; D017023:Coronary Angiography; D003324:Coronary Artery Disease / Q000175:diagnosis* / Q000235:genetics*; D059472:Exome; D005260:Female; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D064326:MEF2 Transcription Factors / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017384:Sequence Deletion; D055815:Young Adult
chemical_list: D015415:Biomarkers; D064326:MEF2 Transcription Factors