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Identification of ultra-rare disruptive variants in voltage-gated calcium channel-encoding genes in Japanese samples of schizophrenia and autism spectrum disorder.

Translational psychiatry - 26 Feb 2022

Wang Chenyao, Horigane Shin-Ichiro, Wakamori Minoru, Ueda Shuhei, Kawabata Takeshi, Fujii Hajime, Kushima Itaru, Kimura Hiroki, Ishizuka Kanako, Nakamura Yukako, Iwayama Yoshimi, Ikeda Masashi, Iwata Nakao, Okada Takashi, Aleksic Branko, Mori Daisuke, Yoshida Takashi, Bito Haruhiko, Yoshikawa Takeo, Takemoto-Kimura Sayaka, Ozaki Norio

Abstract excerpt

Several large-scale whole-exome sequencing studies in patients with schizophrenia (SCZ) and autism spectrum disorder (ASD) have identified rare variants with modest or strong effect size as genetic risk factors. Dysregulation of cellular calcium homeostasis might be involved in SCZ/ASD pathogenesis, and genes encoding L-type voltage-gated calcium channel (VGCC) subunits Cav1.1 (CACNA1S), Cav1.2 (CACNA1C), Cav1.3...

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Identifiers

PMID: 35220405
DOI: 10.1038/s41398-022-01851-y
PMCID: PMC8882172

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