Details of a Researcher - ISHIZUKA Kanako

Papers - ISHIZUKA Kanako

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Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population Reviewed

Emiko Inoue, Yuichiro Watanabe, Jingrui Xing, Itaru Kushima, Jun Egawa, Shujiro Okuda, Satoshi Hoya, Takashi Okada, Yota Uno, Kanako Ishizuka, Atsunori Sugimoto, Hirofumi Igeta, Ayako Nunokawa, Toshiro Sugiyama, Norio Ozaki, Toshiyuki Someya

PLOS ONE 10 ( 12 ) e0144624 2015.12

Language：English Publishing type：Research paper (scientific journal) Publisher：PUBLIC LIBRARY SCIENCE

Rare variations contribute substantially to autism spectrum disorder (ASD) liability. We recently performed whole-exome sequencing in two families with affected siblings and then carried out a follow-up study and identified ceroid-lipofuscinosis neuronal 8 (epilepsy, progressive with mental retardation) (CLN8) as a potential genetic risk factor for ASD. To further investigate the role of CLN8 in the genetic etiology of ASD, we performed resequencing and association analysis of CLN8 with ASD in a Japanese population. Resequencing the CLN8 coding region in 256 ASD patients identified five rare missense variations: g.1719291G>A (R24H), rs201670636 (F39L), rs116605307 (R97H), rs143701028 (T108M) and rs138581191 (N152S). These variations were genotyped in 568 patients (including the resequenced 256 patients) and 1017 controls. However, no significant association between these variations and ASD was identified. This study does not support a contribution of rare missense CLN8 variations to ASD susceptibility in the Japanese population.

DOI： 10.1371/journal.pone.0144624

Web of Science

PubMed

臨床知に根ざした神経科学を担う人材育成統合失調症の発症に強い影響を与える稀なゲノムコピー数変異(CNV)の検討

久島周, アレクシッチ・ブランコ, 椎野智子, 吉見陽, 大矢友子, 木村大樹, Wang Chenyao, 高崎悠登, 石塚佳奈子, 鈴木道雄, 糸川昌成, 大森哲郎, 染矢俊幸, 吉川武男, Xing Jingrui, 武田雅俊, 橋本亮太, 岩田仲生, 池田匡志, 尾崎紀夫

日本生物学的精神医学会・日本神経精神薬理学会合同年会プログラム・抄録集 37回・45回 123 - 123 2015.09

Language：Japanese Publisher：日本生物学的精神医学会・日本神経精神薬理学会

遺伝と遺伝子研究を正しく理解する Invited

石塚佳奈子, 木村大樹, 尾崎紀夫

こころの科学 180 87-90 2015.03

Language：Japanese Publishing type：Research paper (scientific journal)

自閉スペクトラム症の児童に対する応用行動分析に基づく介入 Invited