A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication

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 u...

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Detalles Bibliográficos
Autores principales: Francese-Santos, Ana Paula, Meinel, Jakob A., Piveta, Cristiane S. C., Andrade, Juliana G. R., Barros, Beatriz A., Fabbri-Scallet, Helena, Gil-da-Silva-Lopes, Vera Lúcia, Guerra-Junior, Gil, Künstner, Axel, Busch, Hauke, Hiort, Olaf, de Mello, Maricilda P., Werner, Ralf, Maciel-Guerra, Andréa T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9820669/
https://www.ncbi.nlm.nih.gov/pubmed/36613932
http://dx.doi.org/10.3390/ijms24010494
Descripción
Sumario: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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