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. 2015 Dec 14;10(12):e0144624.
doi: 10.1371/journal.pone.0144624. eCollection 2015.

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

Emiko Inoue  1 , Yuichiro Watanabe  1 , Jingrui Xing  2 , Itaru Kushima  2 , Jun Egawa  1 , Shujiro Okuda  3 , Satoshi Hoya  1 , Takashi Okada  2 , Yota Uno  2 , Kanako Ishizuka  2 , Atsunori Sugimoto  1 , Hirofumi Igeta  1 , Ayako Nunokawa  1   4 , Toshiro Sugiyama  5 , Norio Ozaki  2 , Toshiyuki Someya  1
Affiliations

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

Emiko Inoue et al. PLoS One. .

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.

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Conflict of interest statement

Competing Interests: The authors have declared that no competing interests exist.

Figures

Fig 1
Fig 1. Genomic structure of the ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) (CLN8) gene.
CLN8 spans approximately 22.9 kb and has three exons (rectangles). Black and white rectangles represent coding and untranslated regions, respectively. A horizontal arrow shows the orientation of transcription. Vertical arrows indicate locations of rare non-synonymous variations identified by resequencing.
See this image and copyright information in PMC

References

    1. Lai MC, Lombardo MV, Baron-Cohen S. Autism. Lancet 2014;383:896–910. 10.1016/S0140-6736(13)61539-1 - DOI - PubMed
    1. Gaugler T, Klei L, Sanders SJ, Bodea CA, Goldberg AP, Lee AB, et al. Most genetic risk for autism resides with common variation. Nat Genet 2014;46:881–885. 10.1038/ng.3039 - DOI - PMC - PubMed
    1. Egawa J, Watanabe Y, Wang C, Inoue E, Sugimoto A, Sugiyama T, et al. Novel rare missense variations and risk of autism spectrum disorder: whole-exome sequencing in two families with affected siblings and a two-stage follow-up study in a Japanese population. PLoS One 2015;10:e0119413 10.1371/journal.pone.0119413 - DOI - PMC - PubMed
    1. Ranta S, Zhang Y, Ross B, Lonka L, Takkunen E, Messer A, et al. The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8 . Nat Genet 1999;23:233–236. - PubMed
    1. Ranta S, Topcu M, Tegelberg S, Tan H, Ustübütün A, Saatci I, et al. Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. Hum Mutat 2004;23:300–305. - PubMed

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