Article
Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes.
Translational psychiatry - 11 Jul 2022
Kimura Hiroki, Nakatochi Masahiro, Aleksic Branko, Guevara James, Toyama Miho, Hayashi Yu, Kato Hidekazu, Kushima Itaru, Morikawa Mako, Ishizuka Kanako, Okada Takashi, Tsurusaki Yoshinori, Fujita Atsushi, Miyake Noriko, Ogi Tomoo, Takata Atsushi, Matsumoto Naomichi, Buxbaum Joseph, Ozaki Norio, Sebat Jonathan
Abstract excerpt
Autism spectrum disorder (ASD) is a highly heritable, complex disorder in which rare variants contribute significantly to disease risk. Although many genes have been associated with ASD, there have been few genetic studies of ASD in the Japanese population. In whole exomes from a Japanese ASD sample of 309 cases and 299 controls, rare variants were associated with ASD within specific neurodevelopmental gene sets,...
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