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Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis

Crompton, Danielle and Rehal, Pauline K and MacPherson, Lesley and Foster, Kathleen and Lunt, Peter and Hughes, Imelda and Brady, Angela F and Pike, Michael G and De Gressi, Susanna and Morgan, Neil V and Hardy, Carol and Smith, Matthew and McDonald, Fiona and Maher, Eamonn R and Kurian, Manju A (2010) Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis. Molecular Genetics and Metabolism, 100. pp. 207-212.

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URL of Published Version: http://dx.doi.org/10.1016/j.ymgme.2010.02.009

Identification Number/DOI: 10.1016/j.ymgme.2010.02.009

Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85% mutations in infantile neuroaxonal dystrophy. We report the novel use of multiplex ligation-dependent probe amplification (MLPA) analysis to detect novel PLA2G6 duplications and deletions. The identification of such copy number variants (CNVs) expands the PLAN mutation spectrum and may account for up to 12.5% of PLA2G6 mutations. MLPA should thus be employed to detect CNVs of PLA2G6 in patients who show clinical features of PLAN but in whom both disease-causing mutations cannot be identified on routine sequencing

Type of Work:Article
Date:2010 (Publication)
School/Faculty:Colleges (2008 onwards) > College of Medical & Dental Sciences
Department:Institute for Biomedical Research
Subjects:R Medicine (General)
Institution:University of Birmingham
Copyright Holders:Elsevier Inc
ID Code:341
Refereed:YES

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  • Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis. (deposited 20 Jul 2010 16:58) [Currently Displayed]
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