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

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  • Additional Information
    • Source:
      Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1018-4813 (Print) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
    • Publication Information:
      Publication: <2003->: London : Nature Publishing Group
      Original Publication: Basel ; New York : Karger, [1992-
    • Subject Terms:
      Chromosomes, Human, Pair 10*; Arrhythmias, Cardiac/*genetics ; Hypertrophy, Right Ventricular/*genetics; DNA Primers ; Female ; Genetic Linkage ; Genotype ; Humans ; Hypertrophy, Right Ventricular/pathology ; Male ; Mutation ; Pedigree
    • 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 search for submicroscopic and intragenic deletions by PCR, we generated hybrid cell lines carrying only the affected or normal chromosome 10 homolog. All sequence tagged sites and exons were present on both homologs. We speculate that regulatory mutations in 1 of the 18 genes from 10q22.3 are responsible for a heterogenous spectrum of clinically distinct myodegenerative disorders, affecting both skeletal and cardiac muscles to variable degrees.
    • Accession Number:
      0 (DNA Primers)
    • Publication Date:
      Date Created: 20080117 Date Completed: 20080604 Latest Revision: 20101118
    • Publication Date:
      20231215
    • Accession Number:
      10.1038/sj.ejhg.5201980
    • Accession Number:
      18197198