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2021 ◽  
Vol 9 (8) ◽  
Author(s):  
Shengfang Qin ◽  
Xueyan Wang ◽  
Yunxing Li


Author(s):  
Shengfang Qin ◽  
Xueyan Wang ◽  
Yunxing Li

SRY gene mutation is a common cause of 46,XY female. We report a 46,XY female with a novel mutation of SRY c.293G>A (p.Trp98ter). Our report provides evidence for a pathogenic role of the SRY gene c.293G>A mutation in an individual and enlarges the spectrum of molecular diagnosis for these patients.



2020 ◽  
Author(s):  
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2019 ◽  
Vol 26 ◽  
pp. 100939
Author(s):  
Karine F. Meyer ◽  
Luiz G. Freitas Filho ◽  
Karina I. Silva ◽  
Pedro A. Trauzcinsky ◽  
Cristina Reuter ◽  
...  
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2019 ◽  
Vol 15 (7) ◽  
pp. 410-412
Author(s):  
Leila Mahmoudzadeh ◽  
Ata Abbasi ◽  
Haleh Ayatollahi ◽  
Sepideh Rahimi ◽  
Behrouz Ilkhanizadeh


2018 ◽  
Author(s):  
Inas Mazen ◽  
Kenneth McElreavey ◽  
Maha M. Eid ◽  
Anu Bashamboo ◽  
Ghada Kamah


2018 ◽  
Vol 115 (21) ◽  
pp. 5474-5479 ◽  
Author(s):  
Abigail Harris ◽  
Pam Siggers ◽  
Silvia Corrochano ◽  
Nick Warr ◽  
Danielle Sagar ◽  
...  

Mammalian sex determination is controlled by the antagonistic interactions of two genetic pathways: The SRY-SOX9-FGF9 network promotes testis determination partly by opposing proovarian pathways, while RSPO1/WNT-β-catenin/FOXL2 signals control ovary development by inhibiting SRY-SOX9-FGF9. The molecular basis of this mutual antagonism is unclear. Here we show that ZNRF3, a WNT signaling antagonist and direct target of RSPO1-mediated inhibition, is required for sex determination in mice. XY mice lacking ZNRF3 exhibit complete or partial gonadal sex reversal, or related defects. These abnormalities are associated with ectopic WNT/β-catenin activity and reduced Sox9 expression during fetal sex determination. Using exome sequencing of individuals with 46,XY disorders of sex development, we identified three human ZNRF3 variants in very rare cases of XY female presentation. We tested two missense variants and show that these disrupt ZNRF3 activity in both human cell lines and zebrafish embryo assays. Our data identify a testis-determining function for ZNRF3 and indicate a mechanism of direct molecular interaction between two mutually antagonistic organogenetic pathways.





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