PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans


GÜRAN T. , Yesil G., Turan S. , Atay Z., BOZKURTLAR E. , Aghayev A., ...More

EUROPEAN JOURNAL OF ENDOCRINOLOGY, vol.180, no.5, pp.291-309, 2019 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 180 Issue: 5
  • Publication Date: 2019
  • Doi Number: 10.1530/eje-19-0067
  • Title of Journal : EUROPEAN JOURNAL OF ENDOCRINOLOGY
  • Page Numbers: pp.291-309

Abstract

Context: Most of the knowledge on the factors involved in human sexual development stems from studies of rare cases with disorders of sex development. Here, we have described a novel 46, XY complete gonadal dysgenesis syndrome caused by homozygous variants in PPP2R3C gene. This gene encodes B '' gamma regulatory subunit of the protein phosphatase 2A (PP2A), which is a serine/threonine phosphatase involved in the phospho-regulation processes of most mammalian cell types. PPP2R3C gene is most abundantly expressed in testis in humans, while its function was hitherto unknown.