A homozygous missense mutation in TBPL2 is associated with oocyte maturation arrest and degeneration

Yu Wang; Mingfei Xiang; Zhaojuan Yu; Yan Hao; Qianhua Xu; Shuai Kong; Fengsong Wang; Xuanming Shi; Gaojie Song; Yunxia Cao; Lingli Huang; Fuxi Zhu

doi:10.1111/cge.13993

A homozygous missense mutation in TBPL2 is associated with oocyte maturation arrest and degeneration

Yu Wang
, Mingfei Xiang
, Zhaojuan Yu
, Yan Hao
, Qianhua Xu
, Shuai Kong
, Fengsong Wang
, Xuanming Shi
, Gaojie Song
, Yunxia Cao^*
, Lingli Huang^*
, Fuxi Zhu^*

^*Corresponding author for this work

School of Life Sciences

Research output: Contribution to journal › Article › peer-review

10 Scopus citations

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.

Original language	English
Pages (from-to)	324-328
Number of pages	5
Journal	Clinical Genetics
Volume	100
Issue number	3
DOIs	https://doi.org/10.1111/cge.13993
State	Published - Sep 2021

Keywords

TBPL2
female infertility
oocyte degeneration
oocyte maturation arrest

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10.1111/cge.13993

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title = "A homozygous missense mutation in TBPL2 is associated with oocyte maturation arrest and degeneration",

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.",

keywords = "TBPL2, female infertility, oocyte degeneration, oocyte maturation arrest",

author = "Yu Wang and Mingfei Xiang and Zhaojuan Yu and Yan Hao and Qianhua Xu and Shuai Kong and Fengsong Wang and Xuanming Shi and Gaojie Song and Yunxia Cao and Lingli Huang and Fuxi Zhu",

note = "Publisher Copyright: {\textcopyright} 2021 John Wiley \& Sons A/S. Published by John Wiley \& Sons Ltd",

year = "2021",

month = sep,

doi = "10.1111/cge.13993",

language = "英语",

volume = "100",

pages = "324--328",

journal = "Clinical Genetics",

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TY - JOUR

T1 - A homozygous missense mutation in TBPL2 is associated with oocyte maturation arrest and degeneration

AU - Wang, Yu

AU - Xiang, Mingfei

AU - Yu, Zhaojuan

AU - Hao, Yan

AU - Xu, Qianhua

AU - Kong, Shuai

AU - Wang, Fengsong

AU - Shi, Xuanming

AU - Song, Gaojie

AU - Cao, Yunxia

AU - Huang, Lingli

AU - Zhu, Fuxi

PY - 2021/9

Y1 - 2021/9

N2 - 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.

AB - 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.

KW - TBPL2

KW - female infertility

KW - oocyte degeneration

KW - oocyte maturation arrest

UR - https://www.scopus.com/pages/publications/85105607280

U2 - 10.1111/cge.13993

DO - 10.1111/cge.13993

M3 - 文章

C2 - 33966269

AN - SCOPUS:85105607280

SN - 0009-9163

VL - 100

SP - 324

EP - 328

JO - Clinical Genetics

JF - Clinical Genetics

IS - 3

ER -

A homozygous missense mutation in TBPL2 is associated with oocyte maturation arrest and degeneration

Abstract

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