A homozygous missense mutation in TBPL2 is associated with oocyte maturation arrest and degeneration. Issue 3 (13th May 2021)

• Record Type: Journal Article
• Authors: Wang, Yu; Xiang, Mingfei; Yu, Zhaojuan; Hao, Yan; Xu, Qianhua; Kong, Shuai; Wang, Fengsong; Shi, Xuanming; Song, Gaojie; Cao, Yunxia; Huang, Lingli; Zhu, Fuxi
• Is Part Of: Clinical genetics. Volume 100:Issue 3(2021)
• Page Start: 324
• Page End: 328
• Publication Date: 2021-05-13
• Subjects: female infertility -- oocyte degeneration -- oocyte maturation arrest -- TBPL2; Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.13993
• Languages: English
• ISSNs: 0009-9163

Abstract

Abstract: The genetic causes in most of patients with oocyte maturation arrest remain largely unknown. In this study, we identified a homozygous missense mutation (c.895T>C; p.C299R) in TBPL2 (TATA box binding protein like 2) in two infertile sisters with oocyte maturation arrest and degeneration from a consanguineous family by whole‐exome sequencing. The TBPL2 mutation is rare and pathogenic, and impaired the transcription initiation function of the protein. Our results showed that TBPL2 mutation might be associated with female infertility due to oocyte maturation arrest and degeneration. Abstract : ​