Whole exome sequencing identifies the TNNI3K gene as a cause of familial conduction system disease and congenital junctional ectopic tachycardia

International Journal of Cardiology

Volumn 185, Issue , 2015, Pages 114-116

  Xi, Yanwei ^a   Honeywell, Christina ^a   Zhang, Dapeng ^b   Schwartzentruber, Jeremy ^c   Beaulieu, Chandree L ^a   Tetreault, Martine ^c   Hartley, Taila ^a   Marton, Jennifer ^c   Vidal, Silvia M ^c   Majewski, Jacek ^c   Aravind, L ^b   Gollob, Michael ^d   Boycott, Kym M ^a   Gow, Robert M ^a  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c MCGILL UNIVERSITY   (Canada)

^d UNIVERSITY OF TORONTO   (Canada)

Author keywords

Exome sequencing; Junctional ectopic tachycardia; TNNI3K

Indexed keywords

MITOGEN ACTIVATED PROTEIN KINASE; TNNI3K PROTEIN; TROPONIN I; UNCLASSIFIED DRUG; DNA; TNNI1PROTEIN, HUMAN;

ARRHYTHMOGENESIS; ATRIOVENTRICULAR NODAL REENTRY TACHYCARDIA; COMPLETE HEART BLOCK; ELECTROCARDIOGRAPHY; ENZYME ACTIVITY; ENZYME SPECIFICITY; EXOME; FAMILIAL CARDIAC CONDUCTION DISEASE; FAMILIAL DISEASE; FAMILY HISTORY; FIRST DEGREE ATRIOVENTRICULAR BLOCK; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC SCREENING; HEART MUSCLE CONDUCTION DISTURBANCE; HEART RIGHT BUNDLE BRANCH BLOCK; HUMAN; INHERITANCE; JUNCTIONAL ECTOPIC TACHYCARDIA; LEFT ANTERIOR FASCICULAR BLOCK; LETTER; MOLECULAR PATHOLOGY; NONHUMAN; PRIORITY JOURNAL; SECOND DEGREE ATRIOVENTRICULAR BLOCK; SINUS RHYTHM; TNNI3K GENE; CASE REPORT; CONGENITAL MALFORMATION; FEMALE; GENETICS; HEART MUSCLE CONDUCTION SYSTEM; MALE; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PEDIGREE; PRESCHOOL CHILD; TACHYCARDIA, ECTOPIC JUNCTIONAL;

CHILD, PRESCHOOL; DNA; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; HEART CONDUCTION SYSTEM; HUMANS; MALE; MUTATION; PEDIGREE; TACHYCARDIA, ECTOPIC JUNCTIONAL; TROPONIN I;

EID: 84928252599     PISSN: 01675273     EISSN: 18741754     Source Type: Journal    
DOI: 10.1016/j.ijcard.2015.03.130     Document Type: Article

References (10)

1. H. Henneveld, P. Hutter, and M. Bink-Boelkens Junctional ectopic tachycardia evolving into complete heart block Heart 80 1998 627 628
2. E. Villain, V.L. Vetter, and J.M. Garcia Evolving concepts in the management of congenital junctional ectopic tachycardia. A multicenter study Circulation 81 1990 1544 1549
3. M. Srour, M.L. Putorti, and J. Schwartzentruber Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood Muscle Nerve 50 2014 775 779
4. J.L. Theis, M.T. Zimmermann, and B.T. Larsen TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy Hum. Mol. Genet. 23 2014 5793 5804
5. Z.F. Lai, and Y.Z. Chen Evidence, hypotheses and significance of MAP kinase TNNI3K interacting with its partners World J. Hypertens. 2 2012 22 28
6. F.C. Wheeler, H. Tang, and O.A. Marks Tnni3k modifies disease progression in murine models of cardiomyopathy PLoS Genet. 5 2009 e1000647
7. E.M. Lodder, B.P. Scicluna, and A. Milano Dissection of a quantitative trait locus for PR interval duration identifies Tnni3k as a novel modulator of cardiac conduction PLoS Genet. 8 2012 e1003113
8. M. Azam, M.A. Seeliger, and N.S. Gray Activation of tyrosine kinases by mutation of the gatekeeper threonine Nat. Struct. Mol. Biol. 15 2008 1109 1118
9. P.A. Eyers, M. Craxton, and N. Morrice Conversion of SB 203580-insensitive MAP kinase family members to drug-sensitive forms by a single amino-acid substitution Chem. Biol. 5 1998 321 328
10. R.E. Joseph, and A.H. Andreotti Controlling the activity of the Tec kinase Itk by mutation of the phenylalanine gatekeeper residue Biochemistry 50 2011 221 229