[article]
| Titre : |
Cross-Disorder Analysis of De Novo Mutations in Neuropsychiatric Disorders |
| Type de document : |
texte imprimé |
| Auteurs : |
Kaiqin LI, Auteur ; Zhenghuan FANG, Auteur ; Guifang ZHAO, Auteur ; Bingshan LI, Auteur ; Chao CHEN, Auteur ; Lu XIA, Auteur ; Lifang WANG, Auteur ; Tengfei LUO, Auteur ; Xiaoming WANG, Auteur ; Ziqi WANG, Auteur ; Yi ZHANG, Auteur ; Yi JIANG, Auteur ; Qian PAN, Auteur ; Zhengmao HU, Auteur ; Hui GUO, Auteur ; Beisha TANG, Auteur ; Chaoyu LIU, Auteur ; Zhongsheng SUN, Auteur ; Kun XIA, Auteur ; Jun LI, Auteur |
| Année de publication : |
2022 |
| Article en page(s) : |
p.1299-1313 |
| Langues : |
Anglais (eng) |
| Mots-clés : |
Autism Spectrum Disorder/genetics Genetic Predisposition to Disease Humans Intellectual Disability/genetics Mutation Phenotype Schizophrenia Candidate gene De novo mutation Expression pattern Functional network Neuropsychiatric disorder |
| Index. décimale : |
PER Périodiques |
| Résumé : |
The clinical similarity among different neuropsychiatric disorders (NPDs) suggested a shared genetic basis. We catalogued 23,109 coding de novo mutations (DNMs) from 6511 patients with autism spectrum disorder (ASD), 4,293 undiagnosed developmental disorder (UDD), 933 epileptic encephalopathy (EE), 1022 intellectual disability (ID), 1094 schizophrenia (SCZ), and 3391 controls. We evaluated that putative functional DNMs contribute to 38.11%, 34.40%, 33.31%, 10.98% and 6.91% of patients with ID, EE, UDD, ASD and SCZ, respectively. Consistent with phenotype similarity and heterogeneity in different NPDs, they show different degree of genetic association. Cross-disorder analysis of DNMs prioritized 321 candidate genes (FDR < 0.05) and showed that genes shared in more disorders were more likely to exhibited specific expression pattern, functional pathway, genetic convergence, and genetic intolerance. |
| En ligne : |
http://dx.doi.org/10.1007/s10803-021-05031-7 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455 |
in Journal of Autism and Developmental Disorders > 52-3 (March 2022) . - p.1299-1313
[article] Cross-Disorder Analysis of De Novo Mutations in Neuropsychiatric Disorders [texte imprimé] / Kaiqin LI, Auteur ; Zhenghuan FANG, Auteur ; Guifang ZHAO, Auteur ; Bingshan LI, Auteur ; Chao CHEN, Auteur ; Lu XIA, Auteur ; Lifang WANG, Auteur ; Tengfei LUO, Auteur ; Xiaoming WANG, Auteur ; Ziqi WANG, Auteur ; Yi ZHANG, Auteur ; Yi JIANG, Auteur ; Qian PAN, Auteur ; Zhengmao HU, Auteur ; Hui GUO, Auteur ; Beisha TANG, Auteur ; Chaoyu LIU, Auteur ; Zhongsheng SUN, Auteur ; Kun XIA, Auteur ; Jun LI, Auteur . - 2022 . - p.1299-1313. Langues : Anglais ( eng) in Journal of Autism and Developmental Disorders > 52-3 (March 2022) . - p.1299-1313
| Mots-clés : |
Autism Spectrum Disorder/genetics Genetic Predisposition to Disease Humans Intellectual Disability/genetics Mutation Phenotype Schizophrenia Candidate gene De novo mutation Expression pattern Functional network Neuropsychiatric disorder |
| Index. décimale : |
PER Périodiques |
| Résumé : |
The clinical similarity among different neuropsychiatric disorders (NPDs) suggested a shared genetic basis. We catalogued 23,109 coding de novo mutations (DNMs) from 6511 patients with autism spectrum disorder (ASD), 4,293 undiagnosed developmental disorder (UDD), 933 epileptic encephalopathy (EE), 1022 intellectual disability (ID), 1094 schizophrenia (SCZ), and 3391 controls. We evaluated that putative functional DNMs contribute to 38.11%, 34.40%, 33.31%, 10.98% and 6.91% of patients with ID, EE, UDD, ASD and SCZ, respectively. Consistent with phenotype similarity and heterogeneity in different NPDs, they show different degree of genetic association. Cross-disorder analysis of DNMs prioritized 321 candidate genes (FDR < 0.05) and showed that genes shared in more disorders were more likely to exhibited specific expression pattern, functional pathway, genetic convergence, and genetic intolerance. |
| En ligne : |
http://dx.doi.org/10.1007/s10803-021-05031-7 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455 |
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