In:
cclm, Walter de Gruyter GmbH, Vol. 48, No. 10 ( 2010-10-01), p. 1409-1414
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.
Type of Medium:
Online Resource
ISSN:
1437-4331
,
1434-6621
DOI:
10.1515/CCLM.2010.272
Language:
English
Publisher:
Walter de Gruyter GmbH
Publication Date:
2010
detail.hit.zdb_id:
1492732-9
SSG:
15,3
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