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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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
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author 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.
author_facet 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.
author_sort Francese-Santos, Ana Paula
collection PubMed
description 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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spelling pubmed-98206692023-01-07 A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication 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. Int J Mol Sci Case Report 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. MDPI 2022-12-28 /pmc/articles/PMC9820669/ /pubmed/36613932 http://dx.doi.org/10.3390/ijms24010494 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
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.
A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication
title A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication
title_full A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication
title_fullStr A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication
title_full_unstemmed A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication
title_short A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication
title_sort novel look at dosage-sensitive sex locus xp21.2 in a case of 46,xy partial gonadal dysgenesis without nr0b1 duplication
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9820669/
https://www.ncbi.nlm.nih.gov/pubmed/36613932
http://dx.doi.org/10.3390/ijms24010494
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