A Novel Mutation Of The EMD Gene In A Family With Cardiac Conduction Abnormalities And A High Incidence Of Sudden Cardiac Death
Authors Kong D, Zhan Y, Liu C, Hu Y, Zhou Y, Luo J, Gu L, Zhou X, Zhang Z
Received 1 July 2019
Accepted for publication 27 September 2019
Published 31 October 2019 Volume 2019:12 Pages 319—327
Checked for plagiarism Yes
Review by Single-blind
Peer reviewer comments 2
Editor who approved publication: Dr Martin H. Bluth
Demiao Kong,1,2,* Yi Zhan,3,* Canzhao Liu,4 Yerong Hu,1 Yangzhao Zhou,1,4 Jiawen Luo,1 Lu Gu,1 Xinmin Zhou,1 Zhiwei Zhang1,4
1Department of Cardiovascular Surgery, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, China; 2Department of Thoracic Surgery, Guizhou Provincial People’s Hospital, Guiyang, Guizhou 550002, China; 3Department of Dermatology, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, China; 4Department of Medicine, University of California San Diego, La Jolla, CA 92093, USA
*These authors contributed equally to this work
Correspondence: Zhiwei Zhang
Department of Cardiovascular Surgery, The Second Xiangya Hospital, Central South University, No. 139 Middle Renmin Road, Changsha, Hunan 410011, People’s Republic of China
Tel +86 13787083210 Email email@example.com
Background: Emery-Dreifuss muscular dystrophy, caused by mutations in genes such as emerin (EMD) or lamin A/C (LMNA), is a disorder affecting the joints, muscles, and heart, with a wide spectrum of patient phenotypes including muscle wasting and cardiac conduction defects.
Methods and results: Here we report a multi-generation family from the Hunan Province of China. Affected family members displayed an uncommon clinical presentation of serious cardiac conduction abnormalities at an early age and a high incidence of sudden cardiac death along with mild skeletal muscular atrophy and joint contracture. Clinical analysis of affected members provided evidence of X-linked recessive inheritance. Consequently, using Sanger sequencing of X chromosome exomes, we identified a novel duplication mutation (c.405dup/p.Asp136X) in the EMD gene as the cause for the disease in this family. This variant is a novel mutation that has not been previously reported in Pubmed, Clinvar or other cases reported in the Human Gene Mutation Database.
Conclusion: Our finding expands the mutation spectrum of Emery-Dreifuss muscular dystrophy and provides a rationale for EMD mutation testing in cases of X-linked inherited cardiac conduction disease and sudden cardiac death, even in those lacking pathognomonic neuromuscular features.
Keywords: Emery-Dreifuss muscular dystrophy, emerin, sudden cardiac death, cardiac conduction abnormalities, mutation
This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License. By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.Download Article [PDF] View Full Text [HTML][Machine readable]