Journal article

Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development

Jocelyn A van den Bergen, Gorjana Robevska, Stefanie Eggers, Stefan Riedl, Sonia R Grover, Philip B Bergman, Chris Kimber, Ashish Jiwane, Sophy Khan, Csilla Krausz, Jamal Raza, Irum Atta, Susan R Davis, Makato Ono, Vincent Harley, Sultana MH Faradz, Andrew H Sinclair, Katie L Ayers



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, Australia

Awarded by Diponegoro University: UNDIP/DIPA

Awarded by Diponegoro University: UNDIP RPI Grant

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: and UNDIP RPI Grant No 474-73/UN7.P4.3/PP/2018.