Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy

Circulation
R Ortiz-LopezJeffrey A Towbin

Abstract

X-linked dilated cardiomyopathy (XLCM) has previously been shown to be due to mutations in the dystrophin gene, which is located at Xp21. Mutations in the 5' portion of the gene, including the muscle promoter, exon 1, and the exon 1-intron 1 splice site, have been reported previously. The purpose of this study was to analyze the originally described family with XLCM (and other) for dystrophin mutations. Polymerase chain reaction (PCR) was used to amplify genomic DNA, and reverse-transcriptase PCR amplified cDNA from RNA obtained from heart and lymphoblastoid cell lines. Primers to the muscle promoter, brain promoter, and Purkinje cell promoter were designed, in addition to the exon 1 to exon 14 regions of dystrophin. Single-strand conformation polymorphism analysis was used for mutation detection, and DNA sequencing defined the mutation. Protein modeling was used for amino acid and secondary structure analysis. A missense mutation in exon 9 at nucleotide 1043 was identified that causes an alanine to be substituted for threonine, a highly conserved amino acid, at position 279 (T279A). This mutation results in a change in polarity in the evolutionarily conserved first hinge region (H1) of the protein and substitution of a beta-sh...Continue Reading

References

Nov 1, 1992·The Biochemical Journal·T G SherrattP N Strong
Jun 1, 1991·Neurochemical Research·A D GurusingheM T Hearn
Sep 20, 1991·Cell·J M Ervasti, K P Campbell
Feb 15, 1991·Proceedings of the National Academy of Sciences of the United States of America·F M BoyceL M Kunkel
Nov 1, 1990·Journal of Biochemistry·M Yoshida, E Ozawa
Jun 15, 1990·Biochemical and Biophysical Research Communications·M Michalak, E Zubrzycka-Gaarn
Nov 1, 1990·Human Genetics·A H BeggsL M Kunkel
Apr 1, 1989·International Journal of Biological Macromolecules·M D DavisonJ C Wootton
Mar 16, 1989·Nature·K P Campbell, S D Kahl
Dec 23, 1988·Nucleic Acids Research·C LemaireJ L Mandel
May 7, 1987·The New England Journal of Medicine·B A Berko, M Swift
Mar 27, 1995·American Journal of Medical Genetics·Y SunC G Palmer
Aug 1, 1995·The Journal of Clinical Investigation·F MuntoniC Sewry
May 1, 1995·British Heart Journal·P J KeelingW J McKenna
Dec 8, 1994·The New England Journal of Medicine·G W Dec, V Fuster
Apr 1, 1993·Nature Genetics·A H Ahn, L M Kunkel
Feb 1, 1994·Human Molecular Genetics·J Reiss, F Rininsland
Aug 30, 1994·Proceedings of the National Academy of Sciences of the United States of America·J M TinsleyK E Davies
Jan 28, 1994·Journal of Molecular Biology·E KahanaW B Gratzer
May 1, 1993·Genomics·R G RobertsD R Bentley
Jun 1, 1993·Biochemical Medicine and Metabolic Biology·J A Towbin

❮ Previous
Next ❯

Citations

Oct 18, 2005·Human Genetics·Jost SchönbergerMichael Zimmer
Feb 23, 2002·Current Treatment Options in Cardiovascular Medicine·Bhavesh SachdevWilliam J. McKenna
Sep 8, 2010·Journal of Cardiovascular Translational Research·Emma J Birks, Robert S George
Apr 13, 2001·European Journal of Pharmacology·P Charron, M Komajda
Apr 28, 1999·Pediatric Clinics of North America·J A Towbin
Apr 13, 2000·Pharmacology & Therapeutics·K Nakagawa, T Ishizaki
Jun 7, 2000·Journal of the American College of Cardiology·E ArbustiniL Tavazzi
Nov 25, 2000·Journal of the American College of Cardiology·J G CrilleyK Clarke
Feb 2, 2002·Journal of the American College of Cardiology·Niall G MahonWilliam J McKenna
Oct 2, 2002·Journal of the American College of Cardiology·Jinong FengJeffrey A Towbin
Mar 4, 1998·Current Opinion in Cell Biology·J A Towbin
Jul 17, 1999·Neuromuscular Disorders : NMD·A FerliniF Muntoni
Dec 15, 2000·Progress in Pediatric Cardiology·N E BowlesJ A Towbin
May 5, 2000·Journal of Nuclear Cardiology : Official Publication of the American Society of Nuclear Cardiology·G Shah, R Roberts
Oct 3, 2002·Molecular Genetics and Metabolism·Jinong FengSteve S Sommer
Dec 7, 2002·Molecular Genetics and Metabolism·Rui ChenUNKNOWN Noncompaction study collaborators
Apr 17, 2008·Molecular Therapy : the Journal of the American Society of Gene Therapy·DeWayne TownsendJoseph M Metzger
Jan 9, 2010·The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences·Sunil K KakarlaEric R Blough
Aug 30, 2005·Annual Review of Genomics and Human Genetics·Ferhaan AhmadChristine E Seidman
Sep 7, 2000·The Journal of Clinical Investigation·S TsubataJ A Towbin
Mar 31, 2001·Journal of the American Veterinary Medical Association·K M MeursN A Wright
Aug 11, 2000·European Journal of Heart Failure·M KomajdaF Tesson
Nov 1, 2007·Future Cardiology·Arun KalyanasundaramKimberly A Skelding
Apr 29, 2014·BioMed Research International·Ashling Holland, Kay Ohlendieck
Jun 8, 2001·Biochemical and Biophysical Research Communications·T KawadaT Toyo-oka
Oct 24, 2002·Journal of Molecular and Cellular Cardiology·Toon A B van VeenHabo J Jongsma
Sep 1, 2000·Journal of Molecular and Cellular Cardiology·T M OlsonL Fananapazir
Mar 29, 2001·Journal of Molecular and Cellular Cardiology·T M OlsonV V Michels
Apr 21, 2004·Current Opinion in Cardiology·Cynthia K WallaceGuillermo Torre-Amione
Sep 12, 2000·Current Cardiology Reports·J A Towbin, N E Bowles
Sep 8, 2004·Expert Review of Cardiovascular Therapy·Karla R Bowles, Neil E Bowles
Apr 25, 2007·Annals of Medicine·Satu Kärkkäinen, Keijo Peuhkurinen
Nov 24, 2011·Heart Failure Clinics·Olga V Savinova, A Martin Gerdes
Sep 28, 2010·Heart Failure Clinics·Jeffrey A Towbin
Jul 28, 2010·Journal of the American Society of Echocardiography : Official Publication of the American Society of Echocardiography·Benjamin W Eidem
Jul 22, 2010·Journal of the American Society of Echocardiography : Official Publication of the American Society of Echocardiography·Robert M WeissKatherine D Mathews
Jul 7, 2009·Trends in Cardiovascular Medicine·DeWayne TownsendJoseph M Metzger

❮ Previous
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