Genotipado a gran escala en la investigación del trastorno del espectro autista y el trastorno por deficit de atención con hiperactividad.

Translated title of the contribution: Large-scale genotyping in research into autism spectrum disorders and attention deficit hyperactivity disorder

M. Bayés, J. A. Ramos, B. Cormand, A. Hervas-Zúñiga, M. del Campo, E. Duran-Tauleria, M. Ribasés, E. Vilella-Cuadrada, Y. de Diego-Otero, M. Casas-Brugué, Xavier P. Estivill

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

INTRODUCTION AND DEVELOPMENT: Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are two neuropsychiatric disorders beginning in childhood that present a high degree of familial aggregation. ASD is characterised by social interaction and communication disorders, whereas patients with ADHD display persistent inattention and/or hyperactive-impulsive behaviour. With the exception of a few cases of autism in which cytogenetic anomalies or mutations have been reported in specific genes, the aetiology of these diseases remains unknown. This is a group of multifactorial diseases with several genes having a lesser effect and there is also an environmental component. Genetic linkage studies have pointed to about 20 chromosomal regions that could well contain genes that grant susceptibility to autism, to ADHD or to both disorders. The challenge to researchers lies in the clinical characterisation, recruitment of patients with ASD and ADHD, gene dosage quantification studies, comparative genomic methylation and hybridisation in order to identify chromosomal rearrangements in patients with autism and severe mental retardation. CONCLUSIONS: Genotyping large SNP-type collections that are potentially functional in genes that are candidates for these disorders, based on pharmacological, biochemical and neuropathological data together with that coming from animal models and linkage studies in a wide collection of samples from patients and controls, will enable us to identify the genetic components of these pathologies and to define their biological foundations.

Original languageSpanish
JournalRevista de Neurologia
Volume40 Suppl 1
Publication statusPublished - 15 Jan 2005
Externally publishedYes

Fingerprint

Attention Deficit Disorder with Hyperactivity
Autistic Disorder
Research
Genes
Genetic Linkage
Comparative Genomic Hybridization
Gene Dosage
Impulsive Behavior
Interpersonal Relations
Cytogenetics
Intellectual Disability
Patient Selection
Methylation
Single Nucleotide Polymorphism
Animal Models
Research Personnel
Pharmacology
Pathology
Mutation
Autism Spectrum Disorder

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Genotipado a gran escala en la investigación del trastorno del espectro autista y el trastorno por deficit de atención con hiperactividad. / Bayés, M.; Ramos, J. A.; Cormand, B.; Hervas-Zúñiga, A.; del Campo, M.; Duran-Tauleria, E.; Ribasés, M.; Vilella-Cuadrada, E.; de Diego-Otero, Y.; Casas-Brugué, M.; Estivill, Xavier P.

In: Revista de Neurologia, Vol. 40 Suppl 1, 15.01.2005.

Research output: Contribution to journalArticle

Bayés, M, Ramos, JA, Cormand, B, Hervas-Zúñiga, A, del Campo, M, Duran-Tauleria, E, Ribasés, M, Vilella-Cuadrada, E, de Diego-Otero, Y, Casas-Brugué, M & Estivill, XP 2005, 'Genotipado a gran escala en la investigación del trastorno del espectro autista y el trastorno por deficit de atención con hiperactividad.', Revista de Neurologia, vol. 40 Suppl 1.
Bayés M, Ramos JA, Cormand B, Hervas-Zúñiga A, del Campo M, Duran-Tauleria E et al. Genotipado a gran escala en la investigación del trastorno del espectro autista y el trastorno por deficit de atención con hiperactividad. Revista de Neurologia. 2005 Jan 15;40 Suppl 1.
Bayés, M. ; Ramos, J. A. ; Cormand, B. ; Hervas-Zúñiga, A. ; del Campo, M. ; Duran-Tauleria, E. ; Ribasés, M. ; Vilella-Cuadrada, E. ; de Diego-Otero, Y. ; Casas-Brugué, M. ; Estivill, Xavier P. / Genotipado a gran escala en la investigación del trastorno del espectro autista y el trastorno por deficit de atención con hiperactividad. In: Revista de Neurologia. 2005 ; Vol. 40 Suppl 1.
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abstract = "INTRODUCTION AND DEVELOPMENT: Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are two neuropsychiatric disorders beginning in childhood that present a high degree of familial aggregation. ASD is characterised by social interaction and communication disorders, whereas patients with ADHD display persistent inattention and/or hyperactive-impulsive behaviour. With the exception of a few cases of autism in which cytogenetic anomalies or mutations have been reported in specific genes, the aetiology of these diseases remains unknown. This is a group of multifactorial diseases with several genes having a lesser effect and there is also an environmental component. Genetic linkage studies have pointed to about 20 chromosomal regions that could well contain genes that grant susceptibility to autism, to ADHD or to both disorders. The challenge to researchers lies in the clinical characterisation, recruitment of patients with ASD and ADHD, gene dosage quantification studies, comparative genomic methylation and hybridisation in order to identify chromosomal rearrangements in patients with autism and severe mental retardation. CONCLUSIONS: Genotyping large SNP-type collections that are potentially functional in genes that are candidates for these disorders, based on pharmacological, biochemical and neuropathological data together with that coming from animal models and linkage studies in a wide collection of samples from patients and controls, will enable us to identify the genetic components of these pathologies and to define their biological foundations.",
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