Whole exome sequencing identifies a novel EMD mutation in a Chinese family with dilated cardiomyopathy

BMC Medical Genetics

Volumn 15, Issue 1, 2014, Pages

  Zhang, Mingqiu ^b   Chen, Jia ^a   Si, Dayong ^b   Zheng, Yu ^a   Jiao, Haixu ^b   Feng, Zhaohui ^b   Hu, Zhengmao ^a   Duan, Ranhui ^a  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b JILIN UNIVERSITY   (China)

Author keywords

Dilated cardiomyopathy; EMD gene; Emery Dreifuss muscular dystrophy; Novel mutation; Whole exome sequencing

Indexed keywords

EMERIN; G PROTEIN COUPLED RECEPTOR; GPR50 PROTEIN, HUMAN; MEMBRANE PROTEIN; NERVE PROTEIN; NUCLEAR PROTEIN; CREATINE KINASE;

ARTICLE; CHINESE; CLINICAL FEATURE; CONGESTIVE CARDIOMYOPATHY; DELETION MUTANT; EMD GENE; EXON; FEMALE; GENE; GENE MUTATION; GENE SEGREGATION; GENOME; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; GPR50 GENE; HAPLOTYPE; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUSCLE ATROPHY; MYOPATHY; PEDIGREE ANALYSIS; PHENOTYPE; PROTEIN DEPLETION; SEQUENCE ANALYSIS; WHOLE EXOME SEQUENCING; CHINA; DNA SEQUENCE; EMERY DREIFUSS MUSCULAR DYSTROPHY; EXOME; GENE DELETION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC VARIABILITY; GENETICS; PATHOLOGY; PEDIGREE; ADULT; BICEPS BRACHII MUSCLE; CHEST TIGHTNESS; CLINICAL EVALUATION; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; DELTOID MUSCLE; DNA BASE COMPOSITION; DYSPNEA; ELECTROCARDIOGRAM; ELECTROMYOGRAPHY; FAMILY; FATIGUE; GENE FREQUENCY; GENE LOCUS; GENE SEQUENCE; GENETIC SCREENING; HEART FAILURE; HEK293 CELL LINE; HOLTER MONITORING; MOTOR UNIT POTENTIAL; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NERVE CONDUCTION; PACEMAKER IMPLANTATION; PAROXYSMAL TACHYCARDIA; SICK SINUS SYNDROME; SINUS BRADYCARDIA; STOP CODON; SUDDEN CARDIAC DEATH; THORAX PAIN; X CHROMOSOME; X CHROMOSOME RECESSIVE INHERITANCE;

CARDIOMYOPATHY, DILATED; CHINA; EXOME; EXONS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC VARIATION; GENOTYPE; HUMANS; MALE; MEMBRANE PROTEINS; MUSCULAR DYSTROPHY, EMERY-DREIFUSS; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; PEDIGREE; PHENOTYPE; RECEPTORS, G-PROTEIN-COUPLED; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 84940287594     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-15-77     Document Type: Article

References (13)

1. Wagner N, Krohne G. LEM-domain proteins: new insights into lamin-interacting proteins. Int Rev Cytol 2007, 261:1-46.
2. Dunnen JD. Leiden Muscular Dystrophy pages of Leiden Open Variation Database. [http://www.dmd.nl/nmdb2/home.php?select_db=EMD].
3. Hershberger RE, Siegfried JD. Update 2011: clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol 2011, 2011(57):1641-1649.
4. Garcia-Pavia P, Cobo-Marcos M, Guzzo-Merello G, Gomez-Bueno1 M, Bornstein B, Lara-Pezzi E, Segovia1 J, Alonso-Pulpon L. Genetics in dilated cardiomyopathy. Biomarkers Med 2013, 74:517-533.
5. Kaplan JC, Hamroun D. Gene Table of Neuromuscular Disorders. [http://www.musclegenetable.fr/].
6. Levoye A, Dam J, Ayoub MA, Guillaume JL, Couturier C, Delagrange P, Jockers R. The orphan GPR50 receptor specifically inhibits MT1 melatonin receptor function through heterodimerization. EMBO J 2006, 25:3012-3023.
7. Vohanka S, Vytopil M, Bednarik J, Lukas Z, Kadankaa Z, Schildberger J, Ricotti R, Bioned S, Toniolod D. A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy. Neuromuscul Disord 2001, 11:411-413.
8. Karst ML, Herron KJ, Olson TM. X-linked nonsyndromic sinus node dysfunction and atrial fibrillation caused by emerin mutation. J Cardiovasc Electrophysiol 2008, 195:510-515.
9. Sakata K, Shimizu M, Ino H, Yamaguchi M, Terai H, Fujino N, Hayashi K, Kaneda T, Inoue M, Oda Y, Fujita T, Kaku B, Kanaya H, Mabuchi H. High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene. Circulation 2005, 111:3352-3358.
10. Bakay M, Wang Z, Melcon G, Schiltz L, Xuan J, Zhao P, Sartorelli V, Seo J, Pegoraro E, Angelini C, Shneiderman B, Escolar D, Chen YW, Winokur ST, Pachman LM, Fan C, Mandler R, Nevo Y, Gordon E, Zhu Y, Dong Y, Wang Y, Hoffman EP. Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration. Brain 2006, 129:996-1013.
11. Melcon G, Kozlov S, Cutler DA, Sullivan T, Hernandez L, Zhao P, Mitchell S, Nader G, Bakay M, Rottman JN, Hoffman EP, Stewart CL. Loss of emerin at the nuclear envelope disrupts the Rb1/E2F and MyoD pathways during muscle regeneration. Hum Mol Genet 2006, 15:637-651.
12. Gotic I, Schmidt WM, Biadasiewicz K, Leschnik M, Spilka R, Braun J, Stewart CL, Foisner R. Loss of LAP2a delays satellite cell differentiation and affects postnatal fiber-type determination. Stem Cells 2010, 28:480-488.
13. Taylor MRG, Slavov D, Gajewski A, Vlcek S, Ku L, Fain PR, Carniel E, Lenarda AD, Sinagra G, Boucek MM, Cavanaugh J, Graw SL, Ruegg P, Feiger J, Zhu X, Ferguson DA, Bristow MR, Gotzmann J, Foisner R, Mestroni L, . the Familial Cardiomyopathy Registry Research Group Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy. Hum Mutat 2005, 26:566-574. the Familial Cardiomyopathy Registry Research Group.