title: MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation.
abstract: OBJECTIVE
  Routine protocols for the study of mental retardation include karyotype, analysis for fragile X syndrome, and subtelomeric rearrangements. Nevertheless, detection of cryptic rearrangements requires more sensitive techniques. Mutation screening in all known genes responsible for X-linked mental retardation is not feasible, and linkage analysis is sometimes limited. Multiplex ligation probe amplification is a recently developed technique based on the amplification of specific probes that allows relative quantification of 40 to 46 different target DNA sequences in a single reaction.
  
  
  METHODS
  In the present study, we assessed multiplex ligation probe amplification for the detection of microduplications/microdeletions in 80 male patients with suspicion of X-linked mental retardation.
  
  
  RESULTS
  We detected four copy number aberrations (5%): three duplications (GDI1, RPS6KA3, and ARHGEF6) and one deletion (OPHN1). All these changes were confirmed by other molecular techniques, and patients were clinically re-evaluated.
  
  
  CONCLUSIONS
  We strongly recommend the use of multiplex ligation probe amplification as a first screening method for the detection of copy number aberrations in patients with mental retardation because of its cost-effectiveness.
authors.affiliation: Biochemistry and Molecular Genetics Department, Hospital Clínic, Barcelona, Spain.
authors.forename: Irene
authors.initials: I
authors.lastname: Madrigal
authors.forename: Laia
authors.initials: L
authors.lastname: Rodríguez-Revenga
authors.forename: Celia
authors.initials: C
authors.lastname: Badenas
authors.forename: Aurora
authors.initials: A
authors.lastname: Sánchez
authors.forename: Francisco
authors.initials: F
authors.lastname: Martinez
authors.forename: Isabel
authors.initials: I
authors.lastname: Fernandez
authors.forename: Miguel
authors.initials: M
authors.lastname: Fernández-Burriel
authors.forename: Miguel
authors.initials: M
authors.lastname: Fernández-Buriel
authors.forename: M
authors.initials: M
authors.lastname: Milà
mesh_terms: D002869:Chromosome Aberrations; D041321:Chromosomes, Human, X / Q000235:genetics*; D017931:DNA Primers; D015342:DNA Probes / Q000235:genetics; D020440:Gene Duplication; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics*; D021141:Nucleic Acid Amplification Techniques / Q000379:methods; D010375:Pedigree; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D017931:DNA Primers; D015342:DNA Probes