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-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

doi:10.3390/ijms24010494

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-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^*

^*Corresponding author for this work

State University of Campinas (Unicamp)

5 Citations (Scopus)

Abstract

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.

Original language	English
Article number	494
Journal	International Journal of Molecular Sciences
Volume	24
Issue number	1
ISSN	1661-6596
DOIs	https://doi.org/10.3390/ijms24010494
Publication status	Published - 2022

Funding

This work was supported by Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES) (Finance Code 001) and Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) (grant 2015/04763-4) in Brazil. There was also financial support from Bundesministerium für Bildung und Forschung BMBF (01DQ17004) as well as Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) under Germany’s Excellence Strategy (EXC 22167-390884018).

Research Areas and Centers

Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)

DFG Research Classification Scheme

2.22-17 Endocrinology, Diabetology, Metabolism
2.22-20 Pediatric and Adolescent Medicine

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.3390/ijms24010494

Cite this

Francese-Santos, A. P., Meinel, J. A., Piveta, C. S. C., Andrade, J. G. R., Barros, B. A., Fabbri-Scallet, H., Gil-da-Silva-Lopes, V. L., Guerra-Junior, G., Künstner, A., Busch, H., Hiort, O., de Mello, M. P., Werner, R., & Maciel-Guerra, A. T. (2022). A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication. International Journal of Molecular Sciences, 24(1), Article 494. https://doi.org/10.3390/ijms24010494

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

abstract = "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.",

author = "Francese-Santos, \{Ana Paula\} and Meinel, \{Jakob A.\} and Piveta, \{Cristiane S.C.\} and Andrade, \{Juliana G.R.\} and Barros, \{Beatriz A.\} and Helena Fabbri-Scallet and Gil-da-Silva-Lopes, \{Vera L{\'u}cia\} and Gil Guerra-Junior and Axel K{\"u}nstner and Hauke Busch and Olaf Hiort and \{de Mello\}, \{Maricilda P.\} and Ralf Werner and Maciel-Guerra, \{Andr{\'e}a T.\}",

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year = "2022",

doi = "10.3390/ijms24010494",

language = "English",

volume = "24",

journal = "International Journal of Molecular Sciences",

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Francese-Santos, AP, Meinel, JA, Piveta, CSC, Andrade, JGR, Barros, BA, Fabbri-Scallet, H, Gil-da-Silva-Lopes, VL, Guerra-Junior, G, Künstner, A , Busch, H , Hiort, O, de Mello, MP, Werner, R & Maciel-Guerra, AT 2022, 'A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication', International Journal of Molecular Sciences, vol. 24, no. 1, 494. https://doi.org/10.3390/ijms24010494

TY - JOUR

T1 - A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication

AU - Francese-Santos, Ana Paula

AU - Meinel, Jakob A.

AU - Piveta, Cristiane S.C.

AU - Andrade, Juliana G.R.

AU - Barros, Beatriz A.

AU - Fabbri-Scallet, Helena

AU - Gil-da-Silva-Lopes, Vera Lúcia

AU - Guerra-Junior, Gil

AU - Künstner, Axel

AU - Busch, Hauke

AU - Hiort, Olaf

AU - de Mello, Maricilda P.

AU - Werner, Ralf

AU - Maciel-Guerra, Andréa T.

PY - 2022

Y1 - 2022

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/85146031055

U2 - 10.3390/ijms24010494

DO - 10.3390/ijms24010494

M3 - Journal articles

C2 - 36613932

AN - SCOPUS:85146031055

SN - 1661-6596

VL - 24

JO - International Journal of Molecular Sciences

JF - International Journal of Molecular Sciences

IS - 1

M1 - 494

ER -

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

Abstract

Funding

Research Areas and Centers

DFG Research Classification Scheme

UN SDGs

Access to Document

Other files and links

Fingerprint

SFB 1665: Sexdiversity - Determinants, meanings and implications of sex diversity in sociocultural, medical and biological landscapes

Cite this

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

Abstract

Funding

Research Areas and Centers

DFG Research Classification Scheme

UN SDGs

Access to Document

Other files and links

Fingerprint

Projects

SFB 1665: Sexdiversity - Determinants, meanings and implications of sex diversity in sociocultural, medical and biological landscapes

Cite this