Crompton, D and Rehal, PK and MacPherson, L and Foster, K and Lunt, P and Hughes, I and Brady, AF and Pike, MG and De Gressi, S and Morgan, NV and Hardy, C and Smith, M and MacDonald, F and Maher, ER and Kurian, MA (2010) Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis. Mol Genet Metab , 100 (2) 207 - 212. 10.1016/j.ymgme.2010.02.009.
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Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects approximately 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.
|Title:||Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis.|
|Keywords:||Base Sequence, Brain, Child, Preschool, Consanguinity, Gene Deletion, Gene Duplication, Group VI Phospholipases A2, Heredodegenerative Disorders, Nervous System, Humans, Infant, Magnetic Resonance Imaging, Male, Molecular Sequence Data, Mutation, Nucleic Acid Amplification Techniques, Pathology, Molecular|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Child Health > Department of Neurosciences and Mental Health > ICH - Neurosciences Unit|
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