Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population.
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ABSTRACT:
SUBMITTER: Inoue E
PROVIDER: S-EPMC4682829 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Publications
Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population.
Inoue Emiko E Watanabe Yuichiro Y Xing Jingrui J Kushima Itaru I Egawa Jun J Okuda Shujiro S Hoya Satoshi S Okada Takashi T Uno Yota Y Ishizuka Kanako K Sugimoto Atsunori A Igeta Hirofumi H Nunokawa Ayako A Sugiyama Toshiro T Ozaki Norio N Someya Toshiyuki T
PloS one 20151214 12
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 ...[more]
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