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<p>Here, using whole-exome sequencing of a cohort of 17 Japanese patients with 46,XY disorders or differences of sex development, we identified two pathogenic DEAH-box helicase 37 (DHX37) variants in three patients. We also identified a patient with a likely pathogenic variant in <i>SOX9</i> and a rare likely benign variant in DHX37. This Data Report highlights the genetic and phenotypic diversity of <i>DXH37</i> variants.</p>

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DHX37 variants in patients with 46,XY disorders or differences of sex development

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年9月8日

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  • Yuko Katoh-Fukui,
  • Daisuke Saito,
  • Hiroko Narumi,
  • Atsushi Hattori,
  • Maki Igarashi,
  • Erika Uehara,
  • Hirohito Shima,
  • Junko Kanno,
  • Yukihiro Hasegawa,
  • Reiko Horikawa,
  • Keisuke Nagasaki,
  • Maki Fukami

摘要

Here, using whole-exome sequencing of a cohort of 17 Japanese patients with 46,XY disorders or differences of sex development, we identified two pathogenic DEAH-box helicase 37 (DHX37) variants in three patients. We also identified a patient with a likely pathogenic variant in SOX9 and a rare likely benign variant in DHX37. This Data Report highlights the genetic and phenotypic diversity of DXH37 variants.