Deep intronic GPR143 mutation in a Japanese family with ocular albinism

• Naruto, Takuya

• Okamoto, Nobuhiko

• Masuda, Kiyoshi

• Endo, Takao

• Hatsukawa, Yoshikazu

• Kohmoto, Tomohiro

• Imoto, Issei

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.

収録刊行物

• Scientific Reports

  Scientific Reports 5 11334-, 2015-06-10

  Springer Nature

詳細情報

• CRID: 1050566774879518848
• NII論文ID: 120006875681
• ISSN: 20452322
• Web Site: http://repo.lib.tokushima-u.ac.jp/114973
• 本文言語コード: en
• 資料種別: journal article
• データソース種別:
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  • CiNii Articles