MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation.

Abstract

PURPOSE:

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: Irene Madrigal, Laia Rodríguez-Revenga, Celia Badenas, Aurora Sánchez, Francisco Martinez, Isabel Fernandez, Miguel Fernández-Burriel, Miguel Fernández-Buriel, M Milà
• Journal: Genetics in medicine : official journal of the American College of Medical Genetics (Genet Med) Vol. 9 Issue 2 Pg. 117-22 (Feb 2007) ISSN: 1098-3600 [Print] United States
• PMID: 17304053 (Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DNA Primers
• DNA Probes

Topics

• Chromosome Aberrations
• Chromosomes, Human, X (genetics)
• DNA Primers
• DNA Probes (genetics)
• Gene Duplication
• Genetic Testing (methods)
• Humans
• In Situ Hybridization, Fluorescence
• Male
• Mental Retardation, X-Linked (genetics)
• Nucleic Acid Amplification Techniques (methods)
• Pedigree
• Sequence Deletion (genetics)