A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication.
Ana Paula Francese-SantosJakob A MeinelCristiane S C PivetaJuliana G R AndradeBeatriz A BarrosHelena Fabbri-ScalletVera Lúcia Gil-da-Silva-LopesGil Guerra-JuniorAxel KünstnerHauke BuschOlaf HiortMaricilda Palandi de MelloRalf WernerAndréa Trevas Maciel-GuerraPublished in: International journal of molecular sciences (2022)
A region of 160 kb at Xp21.2 has been defined as dosage-sensitive sex reversal (DSS) and includes the NR0B1 gene, considered to be the candidate gene involved in XY gonadal dysgenesis if overexpressed. We describe a girl with 46,XY partial gonadal dysgenesis carrying a 297 kb duplication at Xp21.2 upstream of NR0B1 initially detected by chromosomal microarray analysis. Fine mapping of the breakpoints by whole-genome sequencing showed a tandem duplication of TASL (CXorf21) , GK and partially TAB3 , upstream of NR0B1 . This is the first description of an Xp21.2 duplication upstream of NR0B1 associated with 46,XY partial gonadal dysgenesis.