Arrhythmogenic right ventricular cardiomyopathy type 1 (ARVD1): confirmation of locus assignment and mutation screening of four candidate genes

被引:37
作者
Rampazzo, A
Beffagna, G
Nava, A
Occhi, G
Bauce, B
Noiato, M
Basso, C
Frigo, G
Thiene, G
Towbin, J
Danieli, GA
机构
[1] Univ Padua, Dept Biol, I-35131 Padua, Italy
[2] Univ Padua, Dept Cardiol, I-35131 Padua, Italy
[3] Univ Padua, Dept Pathol, I-35131 Padua, Italy
[4] Baylor Coll Med, Dept Pediat Pediat Cardiol, Houston, TX 77030 USA
关键词
ARVD1; sudden cardiac death; arrhythmogenic cardiomyopathy; candidate gene;
D O I
10.1038/sj.ejhg.5200914
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Arrhythmogenic right ventricular cardiomyopathy type 1 (ARVD1) is an autosomal dominant disorder characterised by progressive degeneration of right ventricular myocardium, arrhythmias and risk of sudden death. By linkage analysis, we previously mapped the involved gene to chromosome 14q24.3. In the present study we report on linkage analysis of one additional and unrelated family, which enabled to confirm previous locus assignment. Another family is reported, in which genetic and clinical data suggest linkage to the same locus. Direct sequencing of DNA from individuals belonging to established ARVD1 families failed to detect causative mutations in exonic sequences of four genes (POMT2, TGFbeta3, KIAAA1036 and KIAA0759) expressed in the heart and which defects could possibly induce plasma membrane instability or apoptosis, key features of ARVD pathogenesis.
引用
收藏
页码:69 / 76
页数:8
相关论文
共 28 条
[1]   Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23 [J].
Ahmad, F ;
Li, DX ;
Karibe, A ;
Gonzalez, O ;
Tapscott, T ;
Hill, R ;
Weilbaecher, D ;
Blackie, P ;
Furey, M ;
Gardner, M ;
Bachinski, LL ;
Roberts, R .
CIRCULATION, 1998, 98 (25) :2791-2795
[2]   Identification and characterization of a novel gene (C4orf5) located on human chromosome 4q with specific expression in cardiac and skeletal muscle [J].
Ahmad, F ;
Gonzalez, O ;
Ramagli, LO ;
Xu, JP ;
Siciliano, MJ ;
Bachinski, LL ;
Roberts, R .
GENOMICS, 2000, 70 (03) :347-353
[3]   Gapped BLAST and PSI-BLAST: a new generation of protein database search programs [J].
Altschul, SF ;
Madden, TL ;
Schaffer, AA ;
Zhang, JH ;
Zhang, Z ;
Miller, W ;
Lipman, DJ .
NUCLEIC ACIDS RESEARCH, 1997, 25 (17) :3389-3402
[4]   THE CELL BIOLOGY OF TRANSFORMING GROWTH-FACTOR-BETA [J].
BARNARD, JA ;
LYONS, RM ;
MOSES, HL .
BIOCHIMICA ET BIOPHYSICA ACTA, 1990, 1032 (01) :79-87
[5]   Arrhythmogenic right ventricular cardiomyopathy - Dysplasia, dystrophy, or myocarditis? [J].
Basso, C ;
Thiene, G ;
Corrado, D ;
Angelini, A ;
Nava, A ;
Valente, M .
CIRCULATION, 1996, 94 (05) :983-991
[6]   Familial effort polymorphic ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy map to chromosome 1q42-43 [J].
Bauce, B ;
Nava, A ;
Rampazzo, A ;
Daliento, L ;
Muriago, M ;
Basso, C ;
Thiene, G ;
Danieli, GA .
AMERICAN JOURNAL OF CARDIOLOGY, 2000, 85 (05) :573-579
[7]   Transforming growth factor β induces caspase 3-independent cleavage of αII-spectrin (α-fodrin) coincident with apoptosis [J].
Brown, TL ;
Patil, S ;
Cianci, CD ;
Morrow, JS ;
Howe, PH .
JOURNAL OF BIOLOGICAL CHEMISTRY, 1999, 274 (33) :23256-23262
[8]   SUDDEN-DEATH IN YOUNG COMPETITIVE ATHLETES - CLINICOPATHOLOGICAL CORRELATIONS IN 22 CASES [J].
CORRADO, D ;
THIENE, G ;
NAVA, A ;
ROSSI, L ;
PENNELLI, N .
AMERICAN JOURNAL OF MEDICINE, 1990, 89 (05) :588-596
[9]   ARGINYL-GLYCYL-ASPARTIC ACID (RGD) - A CELL-ADHESION MOTIF [J].
DSOUZA, SE ;
GINSBERG, MH ;
PLOW, EF .
TRENDS IN BIOCHEMICAL SCIENCES, 1991, 16 (07) :246-250
[10]   MEMBRANE ORGANIZATION OF THE DYSTROPHIN-GLYCOPROTEIN COMPLEX [J].
ERVASTI, JM ;
CAMPBELL, KP .
CELL, 1991, 66 (06) :1121-1131