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hrp0094p1-49 | Sex Endocrinology and Gonads A | ESPE2021

Biallelic PPP2R3C mutations are associated with partial and complete gonadal dysgenesis in 46,XY and 46,XX individuals

Cicek Dilek , Warr Nick , Yesil Gozde , Eker Hatice Kocak , Bas Firdevs , Poyrazoglu Sukran , Darendeliler Feyza , Direk Gul , Hatipoglu Nihal , Eltan Mehmet , Tosun Busra Gurpinar , Kaygusuz Sare Betul , Menevse Tuba Seven , Turan Serap , Bereket Abdullah , Greenfield Andy , Guran Tulay ,

Context: PPP2R3C encodes the Bgamma regulatory subunit of the protein phosphatase 2A (PP2A), which is a serine/threonine phosphatase involved in the phospho-regulation processes of mammalian cells. We have recently reported homozygous and heterozygous mutations in PPP2R3C in patients with syndromic 46,XY complete gonadal dysgenesis (MEGD syndrome) and impaired spermatogenesis, respectively. In this study, we have further investigated th...

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Biallelic PPP2R3C mutations are associated with partial and complete gonadal dysgenesis in 46,XY and 46,XX individuals

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