Novel connexin40 missense mutations in patients with familial atrial fibrillation

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology
Yi-Qing YangWei-Yi Fang

Abstract

This research was aimed at screening connexin40, a cardiac gap junction protein alpha 5, for genetic defects in patients with familial atrial fibrillation (AF). The subjects included 218 unrelated families with lone AF and 200 ethnically matched unrelated healthy individuals as controls. The entire coding region of the connexin40 gene was sequenced initially in 218 unrelated probands with familial AF. The relatives of mutation carriers and 200 controls were subsequently genotyped for the presence of mutations identified in probands. Three novel connexin40 mutations, p.V85I, p.L221I, and p.L229M, were identified in 3 of 218 unrelated AF families, respectively. These heterozygous missense mutations co-segregated with AF in the families and were absent in the 200 unrelated control subjects. A cross-species alignment of connexin40 protein sequences revealed that the altered amino acids were completely conserved evolutionarily. The findings expand the spectrum of mutations in connexin40 linked to AF and provide new insight into the molecular aetiology involved in the pathogenesis of AF.

References

Aug 1, 1991·Stroke; a Journal of Cerebral Circulation·P A WolfW B Kannel
Sep 1, 1974·Cardiovascular Research·D P ZipesG T Robbins
Mar 27, 1997·The New England Journal of Medicine·R BrugadaR Roberts
May 25, 1999·Journal of Molecular and Cellular Cardiology·C VozziN J Severs
Jul 27, 2000·Cardiovascular Research·H M van der VeldenH J Jongsma
Jan 24, 2002·Nature·Stanley Nattel
Jan 11, 2003·Circulation Research·W Antoinette GroenewegenArthur A M Wilde
Jan 11, 2003·Science·Yi-Han ChenWei Huang
Jun 5, 2003·Circulation·Patrick T EllinorCalum A MacRae
Jun 25, 2003·Journal of the American College of Cardiology·Dawood DarbarTimothy M Olson
Mar 17, 2004·Circulation·Chia-Ti TsaiYung-Zu Tseng
Apr 20, 2004·Cardiovascular Research·Nicholas J SeversTsutomu Matsushita
Jun 17, 2004·JAMA : the Journal of the American Medical Association·Caroline S FoxEmelia J Benjamin
Aug 18, 2004·Circulation·Donald M Lloyd-JonesEmelia J Benjamin
Oct 27, 2004·Expert Opinion on Drug Safety·Hanne ElmingChristian Torp-Petersen
Jan 27, 2005·JAMA : the Journal of the American Medical Association·Timothy M OlsonJeffrey L Anderson
Apr 15, 2005·Journal of Cardiovascular Electrophysiology·Kui HongRamon Brugada
Sep 1, 2005·Human Genetics·Patrick T EllinorCalum A MacRae
Oct 6, 2005·Circulation·Suveer BagweJosé Jalife
Jan 24, 2006·European Heart Journal·David O ArnarKari Stefansson
Jun 15, 2006·Human Molecular Genetics·Timothy M OlsonAndre Terzic
Jun 23, 2006·The New England Journal of Medicine·Michael H GollobDonglin Bai
Jul 4, 2006·International Journal of Cardiology·Jyh-Ming JuangLing-Ping Lai
Jul 3, 2007·Nature·Daniel F GudbjartssonKari Stefansson
Mar 18, 2008·Journal of the American College of Cardiology·Dawood DarbarDan M Roden
Jul 11, 2008·The New England Journal of Medicine·Denice M Hodgson-ZingmanTimothy M Olson
Jun 19, 2009·Cardiovascular Research·Sevasti-Maria ChaldoupiHarold V M van Rijen
Jul 15, 2009·Nature Genetics·Daniel F GudbjartssonKari Stefansson
Jul 15, 2009·Nature Genetics·Emelia J BenjaminJacqueline C M Witteman
Sep 5, 2009·Journal of Molecular and Cellular Cardiology·John A JansenHarold V M van Rijen
Oct 8, 2009·Circulation. Arrhythmia and Electrophysiology·Hiroshi WatanabeDan M Roden
Oct 8, 2009·Circulation. Arrhythmia and Electrophysiology·Ingrid Elisabeth ChristophersenKaare Christensen
Feb 23, 2010·Nature Genetics·Patrick T EllinorStefan Kääb

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Citations

Jun 21, 2012·European Journal of Human Genetics : EJHG·Valentina GuidaAlessandro De Luca
Apr 18, 2013·Nature Reviews. Cardiology·Dawood Darbar, Dan M Roden
Sep 9, 2010·Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology·Tamara T Koopmann, Connie R Bezzina
Jul 11, 2013·European Journal of Human Genetics : EJHG·Morten S OlesenJesper H Svendsen
Nov 23, 2013·Cardiovascular Research·Saagar Mahida
May 23, 2015·Journal of Human Genetics·Ingrid E Christophersen, Patrick T Ellinor
Jul 4, 2012·European Journal of Medical Genetics·Yi-Qing YangXu Liu
Jun 29, 2011·Clinica Chimica Acta; International Journal of Clinical Chemistry·Yi-Qing YangXu Liu
Jun 29, 2014·Journal of Molecular and Cellular Cardiology·Joanna GemelEric C Beyer
Jul 14, 2016·Expert Review of Cardiovascular Therapy·Henry Huang, Dawood Darbar
May 10, 2017·Journal of Comparative Effectiveness Research·Anna GundlundEmil L Fosbøl
Mar 16, 2018·International Journal of Molecular Sciences·Robert D Johnson, Patrizia Camelliti
Apr 26, 2014·Circulation Research·Nathan R Tucker, Patrick T Ellinor
Nov 20, 2014·Circulation. Cardiovascular Genetics·Jason D RobertsGregory M Marcus
Jul 14, 2012·Reports on Progress in Physics·Hiroyuki DaidoAlexander S Pirozhkov
May 4, 2012·Molecular Biology Reports·Jun WangYi-Qing Yang
Sep 22, 2017·Pharmacological Reviews·Luc LeybaertRainer Schulz
Jun 27, 2014·Biology of the Cell·Filippo MolicaBrenda R Kwak
Feb 8, 2019·Cardiovascular & Hematological Disorders Drug Targets·Estefanía Lozano-VelascoDiego Franco
Jul 25, 2012·International Journal of Molecular Medicine·Jian LiYi-Qing Yang
Nov 24, 2012·International Journal of Molecular Medicine·Xin-Hua WangYi-Qing Yang
Mar 26, 2013·International Journal of Molecular Medicine·Ri-Tai HuangYi-Qing Yang
Mar 29, 2018·International Journal of Molecular Sciences·Mahmoud NoureldinDonglin Bai
Dec 5, 2019·Experimental and Therapeutic Medicine·Jingjing ChenWei Zhou
Jan 8, 2013·Molecular Medicine Reports·Hai-Feng ShiYi-Qing Yang
Jan 9, 2021·Biochimica Et Biophysica Acta. Molecular Basis of Disease·Damiano BurattoFabio Mammano
May 2, 2017·Heart, Lung & Circulation·Ajita KanthanEddy Kizana

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