MLPA analysis in a cohort of patients with autism

Sara Peixoto,Joana B Melo,Nuno Lavoura,José Ferrão,Luís M Pires,Marta Pinto,Isabel M Carreira,Guiomar Oliveira

doi:10.1186/s13039-017-0302-z

Sara Peixoto, Joana B Melo + Show 6 more

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https://doi.org/10.1186/s13039-017-0302-z

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Journal: Molecular Cytogenetics	Publication Date: Feb 4, 2017
Citations: 2	License type: open-access

Affiliation: University of Coimbra

Abstract

BackgroundAutism 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.ResultsIn 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.ConclusionsOur 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.

Highlights

Autism is a global neurodevelopmental disorder which generally manifests during the first 2 years and continues throughout life, with a range of symptomatic variations
Submicroscopic rearrangements as deletions or duplications in 15q11-13 region, and especially proximal 15q duplications containing the critical regions of Prader-Willi and Angelman Syndrome (PWS/AS), have been reported in various patients with autism representing the majority of chromosome alterations described in this population [12, 21]
It was considered a diagnosis of autism any case where ADI-R and Autism Diagnostic Observation Schedule (ADOS) presented as positive scores and all patients met the criteria for autism spectrum disorder (ASD) from the Diagnostic and Statistical Manual of Mental Disorders (DSM-5)

Summary

Introduction

Autism is a global neurodevelopmental disorder which generally manifests during the first 2 years and continues throughout life, with a range of symptomatic variations. Autism is a global neurodevelopment disorder which, in most cases, manifests during the first 2 years and prolongs throughout life, having clinical variances with aging. It belongs to a large family of disorders - autism spectrum disorder (ASD), clinically characterized by difficulties with communication and social interaction, verbal language deficiencies and by repetitive and stereotype behaviour [1]. Epidemiological studies revealed that the number of children with ASD has been increasing throughout the world. Submicroscopic rearrangements as deletions or duplications in 15q11-13 region, and especially proximal 15q duplications containing the critical regions of Prader-Willi and Angelman Syndrome (PWS/AS), have been reported in various patients with autism representing the majority of chromosome alterations described in this population [12, 21]

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