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Updated: May 8, 2026
Multiplex PCR and Reverse Line Blot Hybridization Assay (mPCR/RLB)
Published on: August 6, 2011
Multiplex ligation-dependant probe amplification study of children with idiopathic mental retardation in South India
Neetha John1, Moka Rajasekhar, Katta Mohan Girisha
1Division of Biotechnology, Manipal Life Sciences Centre, Manipal University, Manipal, Karnataka, India.
Insights
Multiplex ligation-dependent probe amplification (MLPA) identifies genetic causes in 9% of children with idiopathic intellectual disability. This method, combined with karyotype analysis, aids in diagnosing unexplained developmental delays.
Area of Science:
- Genetics
- Neurodevelopmental Disorders
- Clinical Diagnostics
Background:
- Intellectual disability (ID), formerly mental retardation (MR), affects 1-3% of the population.
- Causes of ID remain unknown in approximately 50% of affected children, termed idiopathic ID.
- Complex phenotypes and heterogeneous genetic underpinnings characterize ID.
Purpose of the Study:
- To investigate submicroscopic chromosomal rearrangements in children with developmental delay/intellectual disability.
- To evaluate the utility of multiplex ligation-dependent probe amplification (MLPA) in identifying causes of idiopathic ID.
- To compare the diagnostic yield of conventional cytogenetics with MLPA.
Main Methods:
- Studied 122 children diagnosed with developmental delay/intellectual disability.
- Employed conventional cytogenetics with automated karyotyping.
- Utilized multiplex ligation-dependent probe amplification (MLPA) analysis with SALSA MLPA kits.
Main Results:
- Conventional karyotype analysis revealed no chromosomal abnormalities in the studied cohort.
- MLPA analysis successfully identified chromosomal rearrangements in 11 out of 122 children (9% prevalence).
- Submicroscopic deletions were detected by MLPA in cases where karyotyping was inconclusive.
Conclusions:
- Karyotype analysis alone is insufficient for diagnosing many cases of idiopathic intellectual disability.
- MLPA assays are valuable for detecting submicroscopic micro-deletions, improving diagnostic rates.
- Combined karyotype and MLPA analysis is recommended for comprehensive evaluation of children with idiopathic MR.
Background:
Mental retardation (MR) is a heterogeneous dysfunction of the central nervous system exhibiting complex phenotypes and has an estimated prevalence of 1-3% in the general population. However, in about 50% of the children diagnosed with any form of intellectual disability or developmental delay the cause goes undetected contributing to idiopathic intellectual disability.
Materials And Methods:
A total of 122 children with developmental delay/MR were studied to identify the microscopic and submicroscopic chromosome rearrangements by using the conventional cytogenetics and multiplex ligation dependent probe amplification (MLPA) analysis using SALSA MLPA kits from Microbiology Research Centre Holland [MRC] Holland.
Results:
All the recruited children were selected for this study, after thorough clinical assessment and metaphases prepared were analyzed by using automated karyotyping system. None was found to have chromosomal abnormality; MLPA analysis was carried out in all subjects and identified in 11 (9%) patients.
Conclusion:
Karyotype analysis in combination with MLPA assays for submicroscopic micro-deletions may be recommended for children with idiopathic MR.
