Identification of a New Lamin A/C Mutation in a Chinese Family Affected with Atrioventricular Block as the Prominent Phenotype

• Published in: Journal of Huazhong University of Science and Technology. Medical sciences Vol. 30; no. 1; pp. 103 - 107
• Main Author: 吴小艳 王擎 桂乐 刘木根 张贤钦 金润铭 李伟 闫露 杜戎 王秋芬 祝建芳 杨钧国
• Format: Journal Article
• Language: English
• Published: Heidelberg Huazhong University of Science and Technology 01.02.2010; Department of Pediatrics,Union Hospital Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430022,China; Department of Molecular Cardiology,Cleveland Clinic,Clevela%Human Genome Research Center,Union Hospital Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430022,China%Center for Human Genome Research and College of Life Science and Technology,Huazhong University of Science and Technology,Wuhan 430074,China%Department of Pediatrics,Union Hospital Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430022,China%Electrocardiogram Lab,dinshan Hospital,Jinshan 256000,China; Human Genome Research Center,Union Hospital Tongji Medical College,Huazh%Center for Human Genome Research and College of Life Science and Technology,Huazhong University of Science and Technology,Wuhan 430074,China
• Subjects: Adult; Asian Continental Ancestry Group - genetics; Atrioventricular Block - complications; Atrioventricular Block - genetics; Base Sequence; Cardiomyopathy, Dilated - complications; Cardiomyopathy, Dilated - genetics; Family Health; Female; Humans; Lamin Type A - genetics; Male; Medicine; Medicine & Public Health; Middle Aged; Molecular Sequence Data; Mutation; Pedigree; Phenotype; atrioventricular block; LMNA; dilated cardiomyopathy
• ISSN: 1672-0733; 1993-1352
• DOI: 10.1007/s11596-010-0119-z

Even though mutations in LMNA have been reported in patients with typical dilated cardio-myopathy(DCM)and atrioventricular block(AVB)previously,the purpose of this study was to disclose this novel genetic abnormality in one Chinese family with the atypical phenotype of progressive AVB followed by DCM with normal QRS interval.Genome-wide linkage analysis mapped the AVB gene in this family to a marker at chromosome 1q21.2,where the LMNA gene was located.Direct DNA sequence analysis revealed a heterozygous G t...