Cross-Disorder Analysis of De Novo Mutations in Neuropsychiatric Disorders

Autor/inn/en	Li, Kuokuo; Fang, Zhenghuan; Zhao, Guihu; Li, Bin; Chen, Chao; Xia, Lu; Wang, Lin; Luo, Tengfei; Wang, Xiaomeng; Wang, Zheng; Zhang, Yi; Jiang, Yi; Pan, Qian; Hu, Zhengmao; Guo, Hui; Tang, Beisha; Liu, Chunyu; Sun, Zhongsheng; Xia, Kun; Li, Jinchen
Titel	Cross-Disorder Analysis of De Novo Mutations in Neuropsychiatric Disorders
Quelle	In: Journal of Autism and Developmental Disorders, 52 (2022) 3, S.1299-1313 (15 Seiten) PDF als Volltext Verfügbarkeit
Zusatzinformation	ORCID (Li, Jinchen)
Sprache	englisch
Dokumenttyp	gedruckt; online; Zeitschriftenaufsatz
ISSN	0162-3257
DOI	10.1007/s10803-021-05031-7
Schlagwörter	Mental Disorders; Genetics; Patients; Autism; Pervasive Developmental Disorders; Developmental Disabilities; Epilepsy; Intellectual Disability; Schizophrenia; Coding + Suchen Sie Ihr Suchwort? Mental illness; Geisteskrankheit; Humangenetik; Patient; Autismus; Entwicklungsstörung; Epilepsie; Intellect; Disability; Disabilities; Verstand; Behinderung; Schizophrenie; Codierung; Programmierung
Abstract	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. (As Provided).
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Erfasst von	ERIC (Education Resources Information Center), Washington, DC
Update	2024/1/01