Journal article
Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development
JA van den Bergen, G Robevska, S Eggers, S Riedl, SR Grover, PB Bergman, C Kimber, A Jiwane, S Khan, C Krausz, J Raza, I Atta, SR Davis, M Ono, V Harley, SMH Faradz, AH Sinclair, KL Ayers
Molecular Genetics and Genomic Medicine | WILEY | Published : 2020
DOI: 10.1002/mgg3.1095
Open access
Abstract
Background: GATA-binding protein 4 (GATA4) and Friend of GATA 2 protein (FOG2, also known as ZFPM2) form a heterodimer complex that has been shown to influence transcription of genes in a number of developmental systems. Recent evidence has also shown these genes play a role in gonadal sexual differentiation in humans. Previously we identified four variants in GATA4 and an unexpectedly large number of variants in ZFPM2 in a cohort of individuals with 46,XY Differences/Disorders of Sex Development (DSD) (Eggers et al, Genome Biology, 2016; 17: 243). Method: Here, we review variant curation and test the functional activity of GATA4 and ZFPM2 variants. We assess variant transcriptional activity..
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Awarded by National Health and Medical Research Council
Funding Acknowledgements
The authors' research work was supported by The National Health and Medical Research Council, Australia (Program grant number 546517 to A.S, P.K, V.H). Research work by S.F supported by Competitive Research Grant by Diponegoro University: UNDIP/DIPA number: 042.01.2.400898/2016 and UNDIP RPI Grant No 474-73/UN7.P4.3/PP/2018.