A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without <i>NR0B1</i> Duplication
- Ana Paula Francese-Santos
- Jakob A. Meinel
- Cristiane S. C. Piveta
- Juliana G. R. Andrade
- Beatriz A. Barros
- Helena Fabbri-Scallet
- Vera Lúcia Gil-da-Silva-Lopes
- Gil Guerra-Junior
- Axel Künstner
- Hauke Busch
- Olaf Hiort
- Maricilda P. de Mello
- Ralf Werner
- Andréa T. Maciel-Guerra
Publication date
December 2022
DOI Publisher
MDPI AG Journal
International Journal of Molecular SciencesAbstract
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
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