[article]
| Titre : |
Gene Disrupting Mutations Associated with Regression in Autism Spectrum Disorder |
| Type de document : |
Texte imprimé et/ou numérique |
| Auteurs : |
R. P. GOIN-KOCHEL, Auteur ; S. TRINH, Auteur ; S. BARBER, Auteur ; Raphael BERNIER, Auteur |
| Article en page(s) : |
p.3600-3607 |
| Langues : |
Anglais (eng) |
| Mots-clés : |
Asd Autism Exome Genetics Mutation Regression Simplex |
| Index. décimale : |
PER Périodiques |
| Résumé : |
Approximately one-third of children with autism spectrum disorder (ASD) reportedly lose skills within the first 3 years, yet a causal mechanism remains elusive. Considering evidence of strong genetic effects for ASD and findings that distinct phenotypes in ASD associate with specific genetic events, we examined rates of parent-reported regression in the Simons Simplex Collection with likely gene disrupting mutations from five distinct classes: FMRP target genes, genes encoding chromatin modifiers, genes expressed preferentially in embryos, genes encoding postsynaptic density proteins, and essential genes. Children with ASD and mutations in postsynaptic density genes were more likely to experience regression, while a trend suggested that children with ASD and mutations in embryonic genes were less likely to have skill losses. |
| En ligne : |
http://dx.doi.org/10.1007/s10803-017-3256-4 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=325 |
in Journal of Autism and Developmental Disorders > 47-11 (November 2017) . - p.3600-3607
[article] Gene Disrupting Mutations Associated with Regression in Autism Spectrum Disorder [Texte imprimé et/ou numérique] / R. P. GOIN-KOCHEL, Auteur ; S. TRINH, Auteur ; S. BARBER, Auteur ; Raphael BERNIER, Auteur . - p.3600-3607. Langues : Anglais ( eng) in Journal of Autism and Developmental Disorders > 47-11 (November 2017) . - p.3600-3607
| Mots-clés : |
Asd Autism Exome Genetics Mutation Regression Simplex |
| Index. décimale : |
PER Périodiques |
| Résumé : |
Approximately one-third of children with autism spectrum disorder (ASD) reportedly lose skills within the first 3 years, yet a causal mechanism remains elusive. Considering evidence of strong genetic effects for ASD and findings that distinct phenotypes in ASD associate with specific genetic events, we examined rates of parent-reported regression in the Simons Simplex Collection with likely gene disrupting mutations from five distinct classes: FMRP target genes, genes encoding chromatin modifiers, genes expressed preferentially in embryos, genes encoding postsynaptic density proteins, and essential genes. Children with ASD and mutations in postsynaptic density genes were more likely to experience regression, while a trend suggested that children with ASD and mutations in embryonic genes were less likely to have skill losses. |
| En ligne : |
http://dx.doi.org/10.1007/s10803-017-3256-4 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=325 |
|
Gene Disrupting Mutations Associated with Regression in Autism Spectrum Disorder in Journal of Autism and Developmental Disorders, 47-11 (November 2017)
