国际生殖健康/计划生育杂志2024，Vol.43Issue(1)：17-19,23,4.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
A Case of Oocyte Maturation Arrest Caused by Heterozygous Variation of TUBB8 Gene c.154-156del
摘要
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.关键词
微管蛋白/基因/突变/卵母细胞/不育,女(雌)性/TUBB8基因Key words
Tubulin/Genes/Mutation/Oocytes/Infertility,female/TUBB8 gene引用本文复制引用
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):17-19,23,4.基金项目
国家自然科学基金(82001516) （82001516）
吴阶平医学基金会临床科研专项资助基金(320.6750.2022-06-45) （320.6750.2022-06-45）
