A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without <i>NR0B1</i> Duplication
oleh: 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
| Format: | Article |
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| Diterbitkan: | MDPI AG 2022-12-01 |
Deskripsi
A region of 160 kb at Xp21.2 has been defined as dosage-sensitive sex reversal (DSS) and includes the <i>NR0B1</i> 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 <i>NR0B1</i> initially detected by chromosomal microarray analysis. Fine mapping of the breakpoints by whole-genome sequencing showed a tandem duplication of <i>TASL (CXorf21)</i>, <i>GK</i> and partially <i>TAB3</i>, upstream of <i>NR0B1</i>. This is the first description of an Xp21.2 duplication upstream of <i>NR0B1</i> associated with 46,XY partial gonadal dysgenesis.