Abstract:

Objective: The preimplantation genetic testing for monogenic disorders (PGT-M) was performed on couples carrying FBXO7 (F-box only protein 7) gene mutation to block the transmission of Parkinson′s disease type 15 gene mutation to their offspring. Methods: For a case with FBXO7 gene mutation, Sanger sequencing was performed to verify the mutation sites c.402G>A and c.872-1G>A of FBXO7 gene in the proband. In addition, multiple SNP amplification was carried out in the range of 2 Mb upstream and downstream of FBXO7 gene in this family. And the SNP haplotype analysis was carried out to distinguish the haplotype carried by the proband. After controlled ovulation induction, intracytoplasmic sperm injection (ICSI) and embryo culture were performed. Blastocysts were formed from Day5 to Day6, and blast trophoblast cell biopsy was performed. After PGT-M technology and related gene analysis, embryo transfer was selected to block the transmission of PD type 15 mutant gene to offspring. Results: A total of 15 oocytes were obtained in this period, and 9 oocytes were fertilized normally after ICSI fertilization, and 5 biopsy blastocysts were formed after blastocyst culture, and 5 blastocysts were successfully expanded after biopsy. The results showed that 2 embryo chromosomes were aneuploidy, 2 of the 3 blastocysts had paternal mutation, and 1 embryo was sick. One carrier embryo which was evaluated as 5BB by morphology was transferred during the frozen-thawed embryo transfer cycle and pregnancy was successful. The results of NT, B-ultrasound and amniocentesis were consistent with the results of PGT-M embryo test. The male healthy baby was born on April 3, 2020. Conclusions: For autosomal recessive Parkinson′s syndrome caused by FBXO7 gene mutation, PGT-M assisted reproductive technology can successfully block the vertical transmission of the gene mutation to the offspring, and help families with FBXO7 type Parkinson′s syndrome to obtain healthy offspring.

Key words: Parkinson disease, Genes, Mutation, Preimplantation diagnosis, Sperm injections,intracytoplasmic