Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
1998554 | Molecular Genetics and Metabolism | 2010 | 6 Pages |
Abstract
Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects â¼85% 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.
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Authors
Danielle Crompton, Pauline K. Rehal, Lesley MacPherson, Katharine Foster, Peter Lunt, Imelda Hughes, Angela F. Brady, Michael G. Pike, Susanna De Gressi, Neil V. Morgan, Carol Hardy, Matthew Smith, Fiona MacDonald, Eamonn R. Maher, Manju A. Kurian,