Department of Reproductive Medicine, Linyi People's Hospital, Linyi, PR China.
Department of Obstetrics and Gynecology, Linyi People's Hospital, Linyi, PR China.
Gynecol Endocrinol. 2021 Dec;37(12):1096-1101. doi: 10.1080/09513590.2021.1916458. Epub 2021 Apr 27.
The genetic basis of fertilization failure after intracytoplasmic sperm injection (ICSI) is largely unknown and the aim of this study is to investigate the genetic causes of fertilization failure in primary infertile women.
Six affected women diagnosed with infertility and fertilization failure were recruited. The genetically pathogenic factor of their fertilization failures were investigated by clinical exome sequencing. One hundred healthy controls were verified by Sanger sequencing.
Novel compound heterozygous mutations c.625G > T and c.759-2A > G of in one affected individual were revealed by clinical exome sequencing. Trios analysis of the mutations represented an autosomal recessive pattern. The nonsense mutation c.625G > T (p.Glu209*) indicated the truncation of the WEE2 protein and c.759-2A > G was predicted to affect the splicing.
The novel variants extend the spectrum of mutations, which promotes the prognostic value of testing for mutations in infertile women with fertilization failure.
卵胞浆内单精子注射（ICSI）后受精失败的遗传基础在很大程度上尚不清楚，本研究旨在探讨原发性不孕女性受精失败的遗传原因。
招募了 6 名被诊断为不孕和受精失败的受影响女性。通过临床外显子组测序研究其受精失败的遗传致病因子。对 100 名健康对照进行 Sanger 测序验证。
通过临床外显子组测序揭示了 1 名受影响个体中 c.625G>T 和 c.759-2A>G 的新型复合杂合突变。突变的三代分析表现为常染色体隐性模式。无义突变 c.625G>T（p.Glu209*）表明 WEE2 蛋白的截断，c.759-2A>G 预计会影响剪接。
新型变体扩展了 突变谱，这提高了在受精失败的不孕女性中检测 突变的预后价值。
