TUBB8基因突变致早期胚胎发育停滞一例

A Case Report of Early Embryonic Arrest due to TUBB8 Mutation

青岛大学附属烟台毓璜顶医院生殖医学中心对1例反复体外受精/卵细胞质内单精子注射(IVF/ICSI)助孕后早期胚胎发育停滞的患者进行了全外显子基因检测,发现了一种新的TUBB8基因突变型(c.208C>T/p.Pro70Ser),并进一步探讨了TUBB8基因突变与早期胚胎发育停滞之间的联系,为反复种植失败的诊断与治疗提供更多可能性。

The mutation in TUBB8 gene(c.208C>T/p.Pro70Ser)was found in a patient with early embryonic arrest after repeated IVF/ICSI.The association between TUBB8 mutation and early embryonic arrest was further explored.This study provides more possibilities for the diagnosis and treatment of patients with recurrent implant failure.