title: Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA).
abstract: Subtelomeric rearrangements are responsible for 5% to 10% of cases of unexplained mental retardation. Despite their clinical relevance, methods to screen for these cytogenetically invisible abnormalities on a routine base are scarce. We screened patients with idiopathic mental retardation for subtelomeric aberrations using multiplex ligation-dependent probe amplification (MLPA). This recently developed technique is based on PCR amplification of ligated probes hybridized to chromosome ends. Currently, 41 telomeres can be screened in just two multiplex reactions. Four subtelomeric rearrangements (5.3%) were detected in a group of 75 patients with mild to severe mental retardation in combination with dysmorphic features and/or a familial history of mental retardation: two terminal 1p deletions, a terminal 1q deletion, and a terminal 3p deletion. Deletions could be verified by FISH and marker analysis. In one case the MLPA indicated a terminal 21q deletion due to a 3-bp deletion at the site of the probe, giving a false-positive rate of 1.3%. This study demonstrates that MLPA is a fast and reliable screening method, potentially suitable for use in routine diagnostics.
authors.affiliation: Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
authors.forename: Liesbeth
authors.initials: L
authors.lastname: Rooms
authors.forename: Edwin
authors.initials: E
authors.lastname: Reyniers
authors.forename: Rob
authors.initials: R
authors.lastname: van Luijk
authors.forename: Stefaan
authors.initials: S
authors.lastname: Scheers
authors.forename: Jan
authors.initials: J
authors.lastname: Wauters
authors.forename: Berten
authors.initials: B
authors.lastname: Ceulemans
authors.forename: Jenneke
authors.initials: J
authors.lastname: Van Den Ende
authors.forename: Yolande
authors.initials: Y
authors.lastname: Van Bever
authors.forename: R Frank
authors.initials: RF
authors.lastname: Kooy
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D015342:DNA Probes; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D016133:Polymerase Chain Reaction / Q000379:methods*; D017384:Sequence Deletion; D016615:Telomere / Q000235:genetics*
chemical_list: D015342:DNA Probes