Open AccessResequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population
Author(s) -
Emiko Inoue,
Yuichiro Watanabe,
Jing Xing,
Itaru Kushima,
Jun Egawa,
Shujiro Okuda,
Satoshi Hoya,
Takashi Okada,
Yuichi Uno,
Kanako Ishizuka,
Atsunori Sugimoto,
Hirofumi Igeta,
Ayako Nunokawa,
Toshiro Sugiyama,
Norio Ozaki,
Toshiyuki Someya
Publication year - 2015
Publication title -
plos one
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.99
H-Index - 332
ISSN - 1932-6203
DOI - 10.1371/journal.pone.0144624
Subject(s) - autism spectrum disorder , missense mutation , genetics , medicine , population , genetic association , exome sequencing , autism , etiology , biology , bioinformatics , genotype , psychiatry , single nucleotide polymorphism , mutation , gene , environmental health
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.