Article
Tsc2 mutation rather than Tsc1 mutation dominantly causes a social deficit in a mouse model of tuberous sclerosis complex.
Human genomics - 2 Feb 2023
Kashii Hirofumi, Kasai Shinya, Sato Atsushi, Hagino Yoko, Nishito Yasumasa, Kobayashi Toshiyuki, Hino Okio, Mizuguchi Masashi, Ikeda Kazutaka
Abstract excerpt
BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that is associated with neurological symptoms, including autism spectrum disorder. Tuberous sclerosis complex is caused by pathogenic germline mutations of either the TSC1 or TSC2 gene, but somatic mutations were identified in both genes, and the combined effects of TSC1 and TSC2 mutations have been unknown. METHODS: The present study...
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