Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family

この論文にアクセスする

この論文をさがす

著者

    • KISHINO Tatsuya
    • Division of Functional Genomics, Center for Frontier Life Sciences, Nagasaki University
    • KONDOH Shinji
    • Division of Functional Genomics, Center for Frontier Life Sciences, Nagasaki University
    • MIWA Nobutomo
    • Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences
    • NIIKAWA Norio
    • The Research Institute of Personalized Health Sciences, Health Sciences University of Hokkaido
    • YOSHIURA Koh-ichiro
    • Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences

抄録

Hereditary congenital ptosis (PTOS) is defined as drooping of the upper eyelid without any other accompanying symptoms and distinguished from syndromic blepharoptosis.Two previous linkage analyses assigned a PTOS locus (PTOS1) to 1p32-p34.1 and another (PTOS2) to Xq24-q27.1. In addition, in a sporadic case with a balanced chromosomal translocation t(1;8)(p34.3;q21.12), the ZFHX4 (zinc finger homeodomain 4) gene was found to be disrupted at the 8q21.12 breakpoint, but there was no gene at the 1p34.3 breakpoint, suggesting the existence of the third PTOS locus (PTOS1) at 8q21.12. We carried out a genome-wide linkage analysis in a Japanese PTOS family and calculated two-point and multipoint LOD scores with reduced penetrance. Haplotype analysis gave three candidate disease-responsible regions, i.e., 8q21.11-q22.1, 12q24.32-q24.33 and 14q21.1-q23.2. Although the family size is too small to define one of them, 8q21.11-q22.1 is a likely candidate region, because it contains the previously reported translocation breakpoint above. We thus performed mutation, Southern-blot and methylation analyses of ZFHX4, but could not find any disease specific change in the family. Nevertheless, our data may support the localization of PTOS1.

収録刊行物

  • Journal of human genetics  

    Journal of human genetics 53(1), 34-41, 2008-01-01 

    Springer Japan

参考文献:  17件

参考文献を見るにはログインが必要です。ユーザIDをお持ちでない方は新規登録してください。

被引用文献:  1件

被引用文献を見るにはログインが必要です。ユーザIDをお持ちでない方は新規登録してください。

各種コード

  • NII論文ID(NAID)
    10021247449
  • NII書誌ID(NCID)
    AA11206160
  • 本文言語コード
    ENG
  • 資料種別
    ART
  • ISSN
    14345161
  • NDL 記事登録ID
    9329251
  • NDL 雑誌分類
    ZS16(科学技術--医学--人類遺伝学)
  • NDL 請求記号
    Z54-H248
  • データ提供元
    CJP書誌  CJP引用  NDL  IR 
ページトップへ