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

Content Provider	PubMed Central
Author	Inoue, Emiko Watanabe, Yuichiro Xing, Jingrui Kushima, Itaru Egawa, Jun Okuda, Shujiro Hoya, Satoshi Okada, Takashi Uno, Yota Ishizuka, Kanako Sugimoto, Atsunori Igeta, Hirofumi Nunokawa, Ayako Sugiyama, Toshiro Ozaki, Norio Someya, Toshiyuki
Editor	Zwick, Michael Edward
Copyright Year	2015
Abstract	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.
Related Links	http://dx.doi.org/10.1371/journal.pone.0144624
Starting Page	144624
File Format	PDF
ISSN	19326203
e-ISSN	19326203
Journal	PLoS ONE
Issue Number	12
Volume Number	10
Language	English
Publisher	Public Library of Science
Publisher Date	2015-12-01
Access Restriction	Open
Rights Holder	Public Library of Science
Subject Keyword	Biochemistry, Genetics and Molecular Biology(all) Agricultural and Biological Sciences(all) Medicine(all) Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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