loading page

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

Corresponding Author:[email protected]

Author Profile
Li-Xian Chang
Chinese Academy of Medical Sciences Institute of Hematology and Blood Diseases Hospital
Author Profile
Li Zhang
Chinese Academy of Medical Sciences Institute of Hematology and Blood Diseases Hospital
Author Profile
Chao Liu
Chinese Academy of Medical Sciences Institute of Hematology and Blood Diseases Hospital
Author Profile
Li-Peng Liu
Chinese Academy of Medical Sciences Institute of Hematology and Blood Diseases Hospital
Author Profile
xiaoyan Chen
Chinese Academy of Medical Sciences Institute of Hematology and Blood Diseases Hospital
Author Profile
Meihui Yi
Chinese Academy of Medical Sciences Institute of Hematology and Blood Diseases Hospital
Author Profile
Yang Lan
Chinese Academy of Medical Sciences Institute of Hematology and Blood Diseases Hospital
Author Profile
Luyang Zhang
Chinese Academy of Medical Sciences Institute of Hematology and Blood Diseases Hospital
Author Profile
Yu-Li Cai
Chinese Academy of Medical Sciences Institute of Hematology and Blood Diseases Hospital
Author Profile
jing feng
Chinese Academy of Medical Sciences Institute of Hematology and Blood Diseases Hospital
Author Profile
Wenqi Wu
Chinese Academy of Medical Sciences Institute of Hematology and Blood Diseases Hospital
Author Profile
Yingchi Zhang
Chinese Academy of Medical Sciences Institute of Hematology and Blood Diseases Hospital
Author Profile
Xiaofan Zhu
Institute of Hematology & Blood Diseases Hospital Chinese Academy of Medical Sciences & PeKing Union Medical College
Author Profile

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.