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

Research output: Contribution to journalArticlepeer-review


  • D Crompton
  • PK Rehal
  • L MacPherson
  • K Foster
  • P Lunt
  • I Hughes
  • AF Brady
  • MG Pike
  • S De Gressi
  • C Hardy
  • M Smith
  • Fiona MacDonald

Colleges, School and Institutes


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


Original languageEnglish
Pages (from-to)207-212
Number of pages6
JournalMolecular Genetics and Metabolism
Issue number2
Early online date16 Feb 2010
Publication statusPublished - 1 Jun 2010


  • MLPA, Deletion, ARMD, PLAN, Duplication, PLA2G6