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

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。

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.