Journal
MOLECULAR GENETICS AND METABOLISM
Volume 100, Issue 2, Pages 207-212Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2010.02.009
Keywords
PLA2G6; PLAN; Duplication; Deletion; MLPA; ARMD
Funding
- Birmingham Children's Hospital Research Foundation
- BDF NewLife
- Action Medical Research
- Action Medical Research [1722] Funding Source: researchfish
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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 similar to 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. (C) 2010 Elsevier Inc. All rights reserved.
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