TUBB8基因c.154-156del杂合变异致卵母细胞成熟阻滞一例

doi:10.12280/gjszjk.20230220

国际生殖健康/计划生育杂志 ›› 2024, Vol. 43 ›› Issue (1): 17-19.doi: 10.12280/gjszjk.20230220

TUBB8基因c.154-156del杂合变异致卵母细胞成熟阻滞一例

闻星星, 柴梦晗, 杨倪, 邹慧娟, 章志国, 李琳, 陈蓓丽()

230032 合肥，安徽医科大学第一附属医院妇产科生殖中心（闻星星，柴梦晗，杨倪，邹慧娟，章志国，陈蓓丽）；首都医科大学附属北京妇产医院中心实验室（李琳）

收稿日期:2023-05-30 出版日期:2024-01-15 发布日期:2024-01-31
通讯作者: 陈蓓丽，E-mail：cbl0118@126.com
基金资助:
国家自然科学基金(82001516);吴阶平医学基金会临床科研专项资助基金(320.6750.2022-06-45)

A Case of Oocyte Maturation Arrest Caused by Heterozygous Variation of TUBB8 Gene c.154-156del

WEN Xing-xing, CHAI Meng-han, YANG Ni, ZOU Hui-juan, ZHANG Zhi-guo, LI Lin, CHEN Bei-li()

Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei 230032, China (WEN Xing-xing, CHAI Meng-han, YANG Ni, ZOU Hui-juan, ZHANG Zhi-guo, CHEN Bei-li); Central Laboratory, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China (LI Lin)

Received:2023-05-30 Published:2024-01-15 Online:2024-01-31
Contact: CHEN Bei-li, E-mail: cbl0118@126.com

摘要/Abstract

摘要：

对1例卵母细胞成熟阻滞患者进行全外显子组测序，通过生物信息学筛查可疑致病变异，对患者及其家系成员进行Sanger测序验证。测序提示患者TUBB8基因存在c.154-156del(p.52del)杂合缺失变异，患者的父母、哥哥、姐姐和侄女均未检出该变异，患者的哥哥、姐姐均已生育，该变异与家系表型共分离，提示TUBB8基因c.154-156del(p.52del)杂合缺失变异可能是该卵母细胞成熟阻滞患者的遗传学病因。TUBB8基因变异在卵母细胞成熟阻滞患者中约占30%，对于这类患者的遗传咨询可常规行TUBB8基因检查，而TUBB8基因变异引起的卵母细胞成熟阻滞患者只能通过卵母细胞捐赠助孕。

关键词: 微管蛋白, 基因, 突变, 卵母细胞, 不育, 女（雌）性, TUBB8基因

Abstract:

Whole exome sequencing was carried out in a patient with oocyte maturation arrest, and the suspected pathogenic variants were screened by bioinformatics and verified by Sanger sequencing on the patient and her family members. A heterozygous deletion variant of the TUBB8 gene c.154-156del(p.52del) was identified in the patient, but was not found in her parents, brother, sister and niece. Both her brother and sister gave birth. This variant co-segregated with the phenotype. The c.154-156del(p.52del) heterozygous deletion variant of the TUBB8 gene may be the genetic cause of this patient with oocyte maturation arrest. TUBB8 gene mutation accounts for about 30% of patients with oocyte maturation arrest. For the patients with oocyte maturation arrest, TUBB8 gene test can be routinely performed in genetic counseling. The patients caused by TUBB8 gene mutation can only conceive through oocyte donation.

Key words: Tubulin, Genes, Mutation, Oocytes, Infertility, female, TUBB8 gene

闻星星, 柴梦晗, 杨倪, 邹慧娟, 章志国, 李琳, 陈蓓丽. TUBB8基因c.154-156del杂合变异致卵母细胞成熟阻滞一例[J]. 国际生殖健康/计划生育杂志, 2024, 43(1): 17-19.

WEN Xing-xing, CHAI Meng-han, YANG Ni, ZOU Hui-juan, ZHANG Zhi-guo, LI Lin, CHEN Bei-li. A Case of Oocyte Maturation Arrest Caused by Heterozygous Variation of TUBB8 Gene c.154-156del[J]. Journal of International Reproductive Health/Family Planning, 2024, 43(1): 17-19.

图/表 4

图1 患者卵母细胞图注：A 患者第1次取卵的MⅡ期卵母细胞（×400）；B 患者第1次取卵的MⅠ期卵母细胞（×200）；C 患者第2次取卵行ICSI时的MⅡ期卵母细胞（×200）；D：患者第2次取卵行ICSI时的MⅠ期卵母细胞（×200）。

图2 患者家系图注：箭头为先证者。

图3 TUBB8基因的Sanger测序结果

图4 不同物种之间蛋白质保守性分析

参考文献 11

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TUBB8基因c.154-156del杂合变异致卵母细胞成熟阻滞一例

A Case of Oocyte Maturation Arrest Caused by Heterozygous Variation of TUBB8 Gene c.154-156del

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