| Titre : |
Copy Number Variation in Autism Spectrum Disorders |
| Type de document : |
Texte imprimé et/ou numérique |
| Auteurs : |
Christian R. MARSHALL, Auteur ; Anath C. LIONEL, Auteur ; Stephen SCHERER, Auteur |
| Année de publication : |
2013 |
| Importance : |
p.145-154 |
| Langues : |
Anglais (eng) |
| Index. décimale : |
SCI-D SCI-D - Neurosciences |
| Résumé : |
It is well established that a significant proportion of the risk underlying autism spectrum disorders (ASD) is genetic. The rapid advancement of high-resolution genome scanning technologies has led to several reproducible findings that are beginning to uncover the genetic architecture of ASD. An identifiable genetic etiology exists in approximately 15% of individuals with ASD, with a large proportion of this currently attributable to copy number variations (CNVs). A recent focus of research has been to identify rare (lt; 0.1% frequency), but apparently highly penetrant, CNVs for candidate ASD-risk gene discovery. This strategy has yielded identification of rare de novo or inherited CNVs in upwards of 10% of cases, implicating hundreds of risk genes in ASD, many of which are involved in synaptic function. The discovery of these highly penetrant susceptibility genes has immediate impact on genetic diagnostic testing while also uncovering pathways amenable for therapeutic intervention. |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189 |
Copy Number Variation in Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Christian R. MARSHALL, Auteur ; Anath C. LIONEL, Auteur ; Stephen SCHERER, Auteur . - 2013 . - p.145-154. Langues : Anglais ( eng)
| Index. décimale : |
SCI-D SCI-D - Neurosciences |
| Résumé : |
It is well established that a significant proportion of the risk underlying autism spectrum disorders (ASD) is genetic. The rapid advancement of high-resolution genome scanning technologies has led to several reproducible findings that are beginning to uncover the genetic architecture of ASD. An identifiable genetic etiology exists in approximately 15% of individuals with ASD, with a large proportion of this currently attributable to copy number variations (CNVs). A recent focus of research has been to identify rare (lt; 0.1% frequency), but apparently highly penetrant, CNVs for candidate ASD-risk gene discovery. This strategy has yielded identification of rare de novo or inherited CNVs in upwards of 10% of cases, implicating hundreds of risk genes in ASD, many of which are involved in synaptic function. The discovery of these highly penetrant susceptibility genes has immediate impact on genetic diagnostic testing while also uncovering pathways amenable for therapeutic intervention. |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189 |
|
Copy Number Variation in Autism Spectrum Disorders