Cargando…

High-Resolution Chromosome Ideogram Representation of Currently Recognized Genes for Autism Spectrum Disorders

Recently, autism-related research has focused on the identification of various genes and disturbed pathways causing the genetically heterogeneous group of autism spectrum disorders (ASD). The list of autism-related genes has significantly increased due to better awareness with advances in genetic te...

Descripción completa

Detalles Bibliográficos
Autores principales: Butler, Merlin G., Rafi, Syed K., Manzardo, Ann M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4394543/
https://www.ncbi.nlm.nih.gov/pubmed/25803107
http://dx.doi.org/10.3390/ijms16036464
_version_ 1782366308525932544
author Butler, Merlin G.
Rafi, Syed K.
Manzardo, Ann M.
author_facet Butler, Merlin G.
Rafi, Syed K.
Manzardo, Ann M.
author_sort Butler, Merlin G.
collection PubMed
description Recently, autism-related research has focused on the identification of various genes and disturbed pathways causing the genetically heterogeneous group of autism spectrum disorders (ASD). The list of autism-related genes has significantly increased due to better awareness with advances in genetic technology and expanding searchable genomic databases. We compiled a master list of known and clinically relevant autism spectrum disorder genes identified with supporting evidence from peer-reviewed medical literature sources by searching key words related to autism and genetics and from authoritative autism-related public access websites, such as the Simons Foundation Autism Research Institute autism genomic database dedicated to gene discovery and characterization. Our list consists of 792 genes arranged in alphabetical order in tabular form with gene symbols placed on high-resolution human chromosome ideograms, thereby enabling clinical and laboratory geneticists and genetic counsellors to access convenient visual images of the location and distribution of ASD genes. Meaningful correlations of the observed phenotype in patients with suspected/confirmed ASD gene(s) at the chromosome region or breakpoint band site can be made to inform diagnosis and gene-based personalized care and provide genetic counselling for families.
format Online
Article
Text
id pubmed-4394543
institution National Center for Biotechnology Information
language English
publishDate 2015
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-43945432015-05-21 High-Resolution Chromosome Ideogram Representation of Currently Recognized Genes for Autism Spectrum Disorders Butler, Merlin G. Rafi, Syed K. Manzardo, Ann M. Int J Mol Sci Article Recently, autism-related research has focused on the identification of various genes and disturbed pathways causing the genetically heterogeneous group of autism spectrum disorders (ASD). The list of autism-related genes has significantly increased due to better awareness with advances in genetic technology and expanding searchable genomic databases. We compiled a master list of known and clinically relevant autism spectrum disorder genes identified with supporting evidence from peer-reviewed medical literature sources by searching key words related to autism and genetics and from authoritative autism-related public access websites, such as the Simons Foundation Autism Research Institute autism genomic database dedicated to gene discovery and characterization. Our list consists of 792 genes arranged in alphabetical order in tabular form with gene symbols placed on high-resolution human chromosome ideograms, thereby enabling clinical and laboratory geneticists and genetic counsellors to access convenient visual images of the location and distribution of ASD genes. Meaningful correlations of the observed phenotype in patients with suspected/confirmed ASD gene(s) at the chromosome region or breakpoint band site can be made to inform diagnosis and gene-based personalized care and provide genetic counselling for families. MDPI 2015-03-20 /pmc/articles/PMC4394543/ /pubmed/25803107 http://dx.doi.org/10.3390/ijms16036464 Text en © 2015 by the authors; licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Butler, Merlin G.
Rafi, Syed K.
Manzardo, Ann M.
High-Resolution Chromosome Ideogram Representation of Currently Recognized Genes for Autism Spectrum Disorders
title High-Resolution Chromosome Ideogram Representation of Currently Recognized Genes for Autism Spectrum Disorders
title_full High-Resolution Chromosome Ideogram Representation of Currently Recognized Genes for Autism Spectrum Disorders
title_fullStr High-Resolution Chromosome Ideogram Representation of Currently Recognized Genes for Autism Spectrum Disorders
title_full_unstemmed High-Resolution Chromosome Ideogram Representation of Currently Recognized Genes for Autism Spectrum Disorders
title_short High-Resolution Chromosome Ideogram Representation of Currently Recognized Genes for Autism Spectrum Disorders
title_sort high-resolution chromosome ideogram representation of currently recognized genes for autism spectrum disorders
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4394543/
https://www.ncbi.nlm.nih.gov/pubmed/25803107
http://dx.doi.org/10.3390/ijms16036464
work_keys_str_mv AT butlermerling highresolutionchromosomeideogramrepresentationofcurrentlyrecognizedgenesforautismspectrumdisorders
AT rafisyedk highresolutionchromosomeideogramrepresentationofcurrentlyrecognizedgenesforautismspectrumdisorders
AT manzardoannm highresolutionchromosomeideogramrepresentationofcurrentlyrecognizedgenesforautismspectrumdisorders