Partial duplication of <i><scp>DHH</scp></i> causes minifascicular neuropathy

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  • Naoko Saito Sato
    Department of Neurology Graduate School of Medicine The University of Tokyo Tokyo Japan
  • Risa Maekawa
    Department of Neurology Tokyo Teishin Hospital Tokyo Japan
  • Hiroyuki Ishiura
    Department of Neurology Graduate School of Medicine The University of Tokyo Tokyo Japan
  • Jun Mitsui
    Department of Neurology Graduate School of Medicine The University of Tokyo Tokyo Japan
  • Hiroya Naruse
    Department of Neurology Graduate School of Medicine The University of Tokyo Tokyo Japan
  • Shin‐ichi Tokushige
    Department of Neurology Graduate School of Medicine The University of Tokyo Tokyo Japan
  • Kazuma Sugie
    Department of Neurology Nara Medical University Nara Japan
  • Genshu Tate
    Department of Surgical Pathology Showa University Fujigaoka Hospital Kanagawa Japan
  • Jun Shimizu
    Department of Neurology Graduate School of Medicine The University of Tokyo Tokyo Japan
  • Jun Goto
    Department of Neurology Graduate School of Medicine The University of Tokyo Tokyo Japan
  • Shoji Tsuji
    Department of Neurology Graduate School of Medicine The University of Tokyo Tokyo Japan
  • Yasushi Shiio
    Department of Neurology Tokyo Teishin Hospital Tokyo Japan

書誌事項

タイトル別名
  • A novel mutation detection of <i><scp>DHH</scp></i>

説明

<jats:title>Abstract</jats:title><jats:p>Minifascicular neuropathy (<jats:styled-content style="fixed-case">MN</jats:styled-content>) is an extremely rare developmental malformation in which peripheral nerves are composed of many small fascicles. Only one patient with <jats:styled-content style="fixed-case">MN</jats:styled-content> with 46<jats:styled-content style="fixed-case">XY</jats:styled-content> gonadal dysgenesis (<jats:styled-content style="fixed-case">GD</jats:styled-content>) was found to carry a mutation affecting the start codon in <jats:italic>desert hedgehog</jats:italic> (<jats:italic><jats:styled-content style="fixed-case">DHH</jats:styled-content></jats:italic>). We identified an identical novel rearrangement mutation of <jats:italic><jats:styled-content style="fixed-case">DHH</jats:styled-content></jats:italic> in two consanguineous families with <jats:styled-content style="fixed-case">MN</jats:styled-content>, confirming mutations in <jats:italic><jats:styled-content style="fixed-case">DHH</jats:styled-content></jats:italic> cause <jats:styled-content style="fixed-case">MN</jats:styled-content> with 46<jats:styled-content style="fixed-case">XY GD</jats:styled-content>. The patients with the 46<jats:styled-content style="fixed-case">XY</jats:styled-content> karyotype developed <jats:styled-content style="fixed-case">GD</jats:styled-content>, whereas a patient with the 46<jats:styled-content style="fixed-case">XX</jats:styled-content> karyotype did not. These findings further support that <jats:italic><jats:styled-content style="fixed-case">DHH</jats:styled-content></jats:italic> has important roles in perineural formation and male gonadal differentiation.</jats:p>

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