文章基本信息

标题：Novel compound heterozygous mutation in WEE2 is associated with fertilization failure: case report of an infertile woman and literature review
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作者：Ye Tian ; Guojie Wang ; Jin Wang 等
期刊名称：BMC Women's Health
印刷版ISSN：1472-6874
电子版ISSN：1472-6874
出版年度：2020
卷号：20
期号：1
页码：1-6
DOI：10.1186/s12905-020-01111-5
出版社：BioMed Central
摘要：Fertilization failure after intracytoplasmic sperm injection continues to affect couples and the etiology is not well-understood. We characterized a couple with 2-year history of primary unexplained infertility. Three different assisted reproduction attempts (IVF rescue ICSI, ICSI and ICSI-AOA) showed repeated fertilization failure for MII oocyte retrieval after controlled ovarian hyperstimulation. After whole-exome sequencing and sanger sequencing of the couple and their family members, variant pathogenicity was assessed using SIFT, PolyPhen2, Mutation Taster, and Human Splicing Finder software. We identified novel compound heterozygous mutations, c.1535 3A > G and c.946C > T (p. Leu316Phe), in WEE2 in the female proband. Trios analysis of the variations revealed an autosomal recessive pattern. c.1535 3A > G in WEE2 was predicted to break the wild-type donor site and affect splicing, and the missense mutation c.946C > T (p. Leu316Phe) of WEE2 was predicted to be pathogenic. A novel compound heterozygous mutation in WEE2 was identified in an infertile female who experienced repeated fertilization failure even after ICSI-AOA. These novel mutations in WEE2 provided genetic evidence for fertilization failure.
关键词：Artificial oocyte activation ; Human fertilization failure ; Novel variants ; WEE2