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ID 114973
著者
Okamoto, Nobuhiko Osaka Medical Center and Research Institute for Maternal and Child Health
Endo, Takao Osaka University
Hatsukawa, Yoshikazu Osaka Medical Center and Research Institute for Maternal and Child Health
Kohmoto, Tomohiro Tokushima University
資料タイプ
学術雑誌論文
抄録
Deep intronic mutations are often ignored as possible causes of human disease. Using whole-exome sequencing, we analysed genomic DNAs of a Japanese family with two male siblings affected by ocular albinism and congenital nystagmus. Although mutations or copy number alterations of coding regions were not identified in candidate genes, the novel intronic mutation c.659-131 T > G within GPR143 intron 5 was identified as hemizygous in affected siblings and as heterozygous in the unaffected mother. This mutation was predicted to create a cryptic splice donor site within intron 5 and activate a cryptic acceptor site at 41nt upstream, causing the insertion into the coding sequence of an out-of-frame 41-bp pseudoexon with a premature stop codon in the aberrant transcript, which was confirmed by minigene experiments. This result expands the mutational spectrum of GPR143 and suggests the utility of next-generation sequencing integrated with in silico and experimental analyses for improving the molecular diagnosis of this disease.
掲載誌名
Scientific Reports
ISSN
20452322
出版者
Springer Nature
5
開始ページ
11334
発行日
2015-06-10
権利情報
This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
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言語
eng
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部局
医学系