MLPA analysis in a cohort of patients with autism.
BACKGROUND
Autism is a global neurodevelopmental disorder which generally manifests during the first 2 years and continues throughout life, with a range of symptomatic variations. Epidemiological studies show an important role of genetic factors in autism and several susceptible regions and genes have been identified. The aim of our study was to validate a cost-effective set of commercial Multiplex Ligation dependent Probe Amplification (MLPA) and methylation specific multiplex ligation dependent probe amplification (MS-MLPA) test in autistic children refered by the neurodevelopmental center and autism unit of a Paediatric Hospital.


RESULTS
In this study 150 unrelated children with autism spectrum disorders were analysed for copy number variation in specific regions of chromosomes 15, 16 and 22, using MLPA. All the patients had been previously studied by conventional karyotype and fluorescence in situ hybridization (FISH) analysis for 15(q11.2q13) and, with these techniques, four alterations were identified. The MLPA technique confirmed these four and identified further six alterations by the combined application of the two different panels.


CONCLUSIONS
Our data show that MLPA is a cost effective straightforward and rapid method for detection of imbalances in a clinically characterized population with autism. It contributes to strengthen the relationship between genotype and phenotype of children with autism, showing the clinical difference between deletions and duplications.
Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.|Neurodevelopmental and Autism Unit from Child Developmental Center and Centro de Investigação e Formação Clinica, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.|Department of Paediatrics of the Centro Hospitalar de Trás-os-Montes e Alto Douro, EPE, Vila Real, Portugal.
Sara
S
Peixoto
Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.|CNC.IBILI, University of Coimbra, Coimbra, Portugal.|CIMAGO - Centro Investigação em Meio Ambiente, Genética e Oncobiologia, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Joana B
JB
Melo
Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
José
J
Ferrão
Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Luís M
LM
Pires
Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Nuno
N
Lavoura
Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Marta
M
Pinto
Neurodevelopmental and Autism Unit from Child Developmental Center and Centro de Investigação e Formação Clinica, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.|University Clinic of Pediatrics and Institute for Biomedical Imaging and Life Science, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Guiomar
G
Oliveira
Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.|CNC.IBILI, University of Coimbra, Coimbra, Portugal.|CIMAGO - Centro Investigação em Meio Ambiente, Genética e Oncobiologia, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Isabel M
IM
Carreira
Autism; Autism spectrum disorders; Copy number variants; Genotype; Methylation Specific Multiplex Ligation-dependent Probe Amplification (MS-MLPA); Multiplex Ligation-dependent Probe Amplification (MLPA); Phenotype