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Novel Gene Variants in SRY-negative 46, XX male syndrome with Bone Marrow Failure by Whole Exome Sequencing
  • +11
  • Aoli Zhang,
  • Li-Xian Chang,
  • Li Zhang,
  • Chao Liu,
  • Li-Peng Liu,
  • xiaoyan Chen,
  • Meihui Yi,
  • Yang Lan,
  • Luyang Zhang,
  • Yu-Li Cai,
  • jing feng,
  • Wenqi Wu,
  • Yingchi Zhang,
  • Xiaofan Zhu
Aoli Zhang
Chinese Academy of Medical Sciences Institute of Hematology and Blood Diseases Hospital
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Li-Xian Chang
Chinese Academy of Medical Sciences Institute of Hematology and Blood Diseases Hospital
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Li Zhang
Chinese Academy of Medical Sciences Institute of Hematology and Blood Diseases Hospital
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Chao Liu
Chinese Academy of Medical Sciences Institute of Hematology and Blood Diseases Hospital
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Li-Peng Liu
Chinese Academy of Medical Sciences Institute of Hematology and Blood Diseases Hospital
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xiaoyan Chen
Chinese Academy of Medical Sciences Institute of Hematology and Blood Diseases Hospital
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Meihui Yi
Chinese Academy of Medical Sciences Institute of Hematology and Blood Diseases Hospital
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Yang Lan
Chinese Academy of Medical Sciences Institute of Hematology and Blood Diseases Hospital
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Luyang Zhang
Chinese Academy of Medical Sciences Institute of Hematology and Blood Diseases Hospital
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Yu-Li Cai
Chinese Academy of Medical Sciences Institute of Hematology and Blood Diseases Hospital
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jing feng
Chinese Academy of Medical Sciences Institute of Hematology and Blood Diseases Hospital
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Wenqi Wu
Chinese Academy of Medical Sciences Institute of Hematology and Blood Diseases Hospital
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Yingchi Zhang
Chinese Academy of Medical Sciences Institute of Hematology and Blood Diseases Hospital
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Xiaofan Zhu
Institute of Hematology & Blood Diseases Hospital Chinese Academy of Medical Sciences & PeKing Union Medical College
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Abstract

46, XX male syndrome is a rare disorder of sex development. One-tenth of 46, XX male syndrome is sex-determining region Y (SRY)-negative. We used whole-exome sequencing (WES) analysis associated genes to investigate the underlying genetic etiology of 46, XX male syndrome patients with bone marrow failure with a typical male phenotype. WES reveals SRY and SRY-box family genes were negative. Simultaneously, gene variants were detected in female pathway, testis development, and steroid receptor genes. There are undefined gene variants associated with congenital bone marrow failure. WES proved an efficient diagnostic method toward 46, XX male syndrome patients with hematological disorder.