| Titre : |
Genetic Causes of Autism Spectrum Disorders |
| Type de document : |
Texte imprimé et/ou numérique |
| Auteurs : |
Guillaume HUGUET, Auteur ; Thomas BOURGERON, Auteur |
| Année de publication : |
2016 |
| Importance : |
p.13-24 |
| Langues : |
Anglais (eng) |
| Mots-clés : |
Autism spectrum disorders CNV Heritability SNV Synapse Twin studies |
| Index. décimale : |
SCI-D SCI-D - Neurosciences |
| Résumé : |
In the past 30 years, twin studies have indicated a strong genetic contribution to autism spectrum disorders (ASD). The heritability of ASD is estimated to be 50%. Whereas most of the inherited part of ASD is captured by common variants, our knowledge about the genetics of ASD comes almost exclusively from identification of highly penetrant de novo mutations through candidate gene or whole exome/genome sequencing studies. Approximately 10% of patients with ASD, especially those with intellectual disability, are carriers of de novo copy number or single nucleotide variants affecting clinically relevant genes for ASD. Because of the function of these genes, it was hypothesized that abnormal synaptic plasticity and failure of neuronal/synaptic homeostasis could increase the risk of ASD. It is hoped that this knowledge will lead to better diagnosis, care, and integration of individuals with ASD. |
| En ligne : |
http://dx.doi.org/10.1016/B978-0-12-800109-7.00002-9 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 |
Genetic Causes of Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Guillaume HUGUET, Auteur ; Thomas BOURGERON, Auteur . - 2016 . - p.13-24. Langues : Anglais ( eng)
| Mots-clés : |
Autism spectrum disorders CNV Heritability SNV Synapse Twin studies |
| Index. décimale : |
SCI-D SCI-D - Neurosciences |
| Résumé : |
In the past 30 years, twin studies have indicated a strong genetic contribution to autism spectrum disorders (ASD). The heritability of ASD is estimated to be 50%. Whereas most of the inherited part of ASD is captured by common variants, our knowledge about the genetics of ASD comes almost exclusively from identification of highly penetrant de novo mutations through candidate gene or whole exome/genome sequencing studies. Approximately 10% of patients with ASD, especially those with intellectual disability, are carriers of de novo copy number or single nucleotide variants affecting clinically relevant genes for ASD. Because of the function of these genes, it was hypothesized that abnormal synaptic plasticity and failure of neuronal/synaptic homeostasis could increase the risk of ASD. It is hoped that this knowledge will lead to better diagnosis, care, and integration of individuals with ASD. |
| En ligne : |
http://dx.doi.org/10.1016/B978-0-12-800109-7.00002-9 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 |
|
Genetic Causes of Autism Spectrum Disorders
