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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Ed. by Gillery, Philippe / Greaves, Ronda / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Payne, Deborah A. / Schlattmann, Peter


IMPACT FACTOR 2018: 3.638

CiteScore 2018: 2.44

SCImago Journal Rank (SJR) 2018: 1.191
Source Normalized Impact per Paper (SNIP) 2018: 1.205

Online
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1437-4331
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Volume 48, Issue 10

Issues

DNA sequencing errors in molecular diagnostics of filamin myopathy

Zagaa Odgerel
  • National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
  • Z. Odgerel and P.F.M. van der Ven contributed equally to this work.
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Peter F.M. van der Ven
  • Department of Molecular Cell Biology, Institute of Cell Biology, University of Bonn, Bonn, Germany
  • Z. Odgerel and P.F.M. van der Ven contributed equally to this work.
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Dieter O. Fürst
  • Department of Molecular Cell Biology, Institute of Cell Biology, University of Bonn, Bonn, Germany
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Lev G. Goldfarb
  • National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
Published Online: 2010-06-28 | DOI: https://doi.org/10.1515/CCLM.2010.272

Abstract

Background: Filamin myopathy is a neuromuscular disorder manifesting with predominantly limb-girdle muscle weakness and in many patients with diaphragm paralysis and cardiomyopathy, caused by mutations in the filamin C (FLNC) gene. Molecular diagnosis of filamin myopathy based on direct DNA sequencing of coding exons is compromised by the presence of a high homology pseudogene (pseFLNC) located approximately 53.6 kb downstream of the functional FLNC gene on chromosome 7q.

Methods: Molecular cloning, RT-PCR and real-time PCR methods were used to detect sequence differences between the FLNC and pseFLNC that are implicated in known or potential molecular diagnostic errors. Overall, 50 patients with a phenotype resembling filamin myopathy have been screened for mutations in FLNC.

Results: FLNC sequence inconsistencies caused by the interference from pseFLNC were identified and diagnostic errors involving, in particular, the detection of the most frequent disease-causing FLNC p.W2710X mutation resolved. Mismatches between the FLNC and pseFLNC sequences were tabulated for future use.

Conclusions: We devise a strategy that allows one to discern mutations occurring in the functional FLNC from those harbored in pseFLNC, thus preventing possible complications in future research and patient genetic testing.

Clin Chem Lab Med 2010;48:1409–14.

Keywords: filamin C (FLNC) gene; filaminopathy; mutation-screening; myofibrillar myopathy; pseudogene

About the article

Corresponding author: Lev G. Goldfarb, National Institutes of Health, Room 4S06, 5625 Fishers Lane, MSC 9404, Bethesda, MD 20892-9404, USA Phone: +1 301 402 1480, Fax: +1 301 496 6341,


Received: 2010-02-23

Accepted: 2010-04-22

Published Online: 2010-06-28

Published in Print: 2010-10-01


Citation Information: Clinical Chemistry and Laboratory Medicine, Volume 48, Issue 10, Pages 1409–1414, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: https://doi.org/10.1515/CCLM.2010.272.

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