Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3

European Journal of Human Genetics : EJHG
Angelika KuhlDieter E Jenne

Abstract

Several years ago, autosomal dominant myofibrillar myopathy (MFM) in combination with arrhythmogenic right ventricular cardiomyopathy (ARVC7) was tentatively mapped to a 10.6-Mbp (million base pairs) region on chromosome 10q22.3 between D10S605 (78.9 Mbp) and D10S215 (89.5 Mbp) in a Swedish family assuming that ARVC7 was allelic with cardiomyopathy, dilated 1C (CMD1C). To date, neither the genetic defect in ARVC7 nor CMD1C has been reported. In a comprehensive follow-up study we re-examined and confirmed the previous linkage data for ARVC7 using a high-density single nucleotide polymorphism marker panel from Affymetrix (Human Mapping 10K Array). No other regions with significant evidence for linkage were discovered. The critical interval was narrowed down to 4.27 Mbp between D10S1645 and D10S1786. This reduced the total number of candidate genes to 18 of which 17 (RAI17, PPIF, C10ORF56, SFTPA1, SFTPA2, SFTPA1B, SFTPA2B, SFTPD, C10ORF57, PLAC9, ANXA11, MAT1A, DYDC1, DYDC2, C10ORF58, TSPAN14 and SH2D4B) are shared with the CMD1C region. No disease-causing mutation was found in their coding regions. Moreover, metavinculin (VCL) and ZASP/cypher (LDB3) proximal and distal to this linked region were excluded by sequence analysis. To ...Continue Reading

References

Sep 15, 1996·The Journal of Clinical Investigation·K R BowlesJ A Towbin
Jun 23, 1998·American Journal of Human Genetics·J R O'Connell, D E Weeks
Feb 29, 2000·Nature·H YanB Vogelstein
Aug 29, 2001·Bioinformatics·G R AbecasisL R Cardon
Jan 30, 2002·Circulation·Timothy M OlsonBrigitte M Jockusch
Dec 9, 2003·The Journal of Biological Chemistry·Takuro ArimuraAkinori Kimura
Dec 10, 2003·Journal of the American College of Cardiology·Matteo VattaJeffrey A Towbin
Apr 28, 2004·Neurology·Duygu Selcen, Andrew G Engel
Sep 21, 2004·Bioinformatics·Holger Thiele, Peter Nürnberg
Jan 14, 2005·Bioinformatics·Franz Rüschendorf, Peter Nürnberg
Jan 26, 2005·Annals of Neurology·Duygu Selcen, Andrew G Engel

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Citations

Mar 8, 2012·European Journal of Human Genetics : EJHG·Carola HedbergAnders Oldfors
Oct 1, 2013·Genome Research·Giuliana GiannuzziMario Ventura
Feb 26, 2013·Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology·Josef FinstererKarim Wahbi
Jul 5, 2013·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·V Ramesh Iyer, Alvin J Chin
Dec 24, 2016·Neuropathology and Applied Neurobiology·M SchuelkeA Oldfors
Dec 16, 2017·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Paul PangAndrew M Siedlecki
Jan 25, 2011·Genetic Testing and Molecular Biomarkers·Alex Hørby ChristensenJesper Hastrup Svendsen
Oct 24, 2013·Journal of Cardiovascular Medicine·Giuseppe LimongelliWilliam J McKenna
Jan 3, 2020·Circulation Research·Urszula RykaczewskaLjubica Matic

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