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.
This is the latest version of this item.
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|
|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|
Available Versions of this Item
- 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]
Repository Staff Only: item control page