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

doi:10.12280/gjszjk.20230220

Abstract

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

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.

Figures/Tables 4

References 11

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