Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population.
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 retardat...
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2015-01-01
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| Series: | PLoS ONE |
| Online Access: | https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0144624&type=printable |
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| author | 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 |
| author_facet | 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 |
| author_sort | Emiko Inoue |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-de67fc4599cd44babb1aa5ebd4897fea |
| institution | OA Journals |
| issn | 1932-6203 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj-art-de67fc4599cd44babb1aa5ebd4897fea2025-08-20T02:15:41ZengPublic Library of Science (PLoS)PLoS ONE1932-62032015-01-011012e014462410.1371/journal.pone.0144624Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population.Emiko InoueYuichiro WatanabeJingrui XingItaru KushimaJun EgawaShujiro OkudaSatoshi HoyaTakashi OkadaYota UnoKanako IshizukaAtsunori SugimotoHirofumi IgetaAyako NunokawaToshiro SugiyamaNorio OzakiToshiyuki SomeyaRare 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.https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0144624&type=printable |
| spellingShingle | 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 Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population. PLoS ONE |
| title | Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population. |
| title_full | Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population. |
| title_fullStr | Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population. |
| title_full_unstemmed | Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population. |
| title_short | Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population. |
| title_sort | resequencing and association analysis of cln8 with autism spectrum disorder in a japanese population |
| url | https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0144624&type=printable |
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