論文

査読有り 国際誌
2018年7月

No novel, high penetrant gene might remain to be found in Japanese patients with unknown MODY.

Journal of human genetics
  • Yukio Horikawa
  • ,
  • Kazuyoshi Hosomichi
  • ,
  • Mayumi Enya
  • ,
  • Hiroyuki Ishiura
  • ,
  • Yutaka Suzuki
  • ,
  • Shoji Tsuji
  • ,
  • Sumio Sugano
  • ,
  • Ituro Inoue
  • ,
  • Jun Takeda

63
7
開始ページ
821
終了ページ
829
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1038/s10038-018-0449-4

MODY 5 and 6 have been shown to be low-penetrant MODYs. As the genetic background of unknown MODY is assumed to be similar, a new analytical strategy is applied here to elucidate genetic predispositions to unknown MODY. We examined to find whether there are major MODY gene loci remaining to be identified using SNP linkage analysis in Japanese. Whole-exome sequencing was performed with seven families with typical MODY. Candidates for novel MODY genes were examined combined with in silico network analysis. Some peaks were found only in either parametric or non-parametric analysis; however, none of these peaks showed a LOD score greater than 3.7, which is approved to be the significance threshold of evidence for linkage. Exome sequencing revealed that three mutated genes were common among 3 families and 42 mutated genes were common in two families. Only one of these genes, MYO5A, having rare amino acid mutations p.R849Q and p.V1601G, was involved in the biological network of known MODY genes through the intermediary of the INS. Although only one promising candidate gene, MYO5A, was identified, no novel, high penetrant MODY genes might remain to be found in Japanese MODY.

リンク情報
DOI
https://doi.org/10.1038/s10038-018-0449-4
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/29670293
ID情報
  • DOI : 10.1038/s10038-018-0449-4
  • ISSN : 1434-5161
  • PubMed ID : 29670293

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