Novel Gene Variants in SRY-negative 46, XX male syndrome with Bone
Marrow Failure by Whole Exome Sequencing
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.