Journal
AGING-US
Volume 13, Issue 22, Pages 24786-24794Publisher
IMPACT JOURNALS LLC
Keywords
Fraser syndrome; FREM2 gene; the next-generation sequencing-based single nucleotide polymorphism haplotyping; embryos selection
Categories
Funding
- Natural Science Foundation of Hainan Province [2019CXTD408, ZDYF2020117]
- Major Science and Technology Program of Hainan Province [ZDKJ202003, ZDKJ2017007]
- National Natural Science Foundation of China [82072880, 81960283, 81460034]
- Hainan Province Clinical Medical Center
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The study identified two novel mutations in the FREM2 gene related to the risk of Fraser syndrome, and described a next-generation sequencing-based single nucleotide polymorphism haplotyping method for selecting embryos from patients with Fraser syndrome for in vitro fertilization and embryo transfer treatment. This approach resulted in the successful delivery of a healthy baby without complications.
Fraser syndrome is a rare autosomal recessive malformation disorder. It is characterized by cryptophthalmos, syndactyly, urinary tract abnormalities and ambiguous genitalia. This condition is due to homozygous or heterozygous mutations in the FRAS1, FREM1, FREM2, and GRIP1 genes. In the present study, we recruited a Chinese family with Fraser syndrome. Two novel mutations c.7542_7543insG and c.2689C>T in the FREM2 gene were detected in this Fraser syndrome family by PCR-based sequencing. The next-generation sequencing-based single nucleotide polymorphism haplotyping method was applied to exclude these two mutations in 9 blastocysts obtained from the patient. After obtaining consent and informing the risk, the patient received in vitro fertilization and embryo transfer treatment with an embryo carrying a heterozygous mutation. Finally, she delivered a healthy baby without any complications on March 17, 2019. In conclusion, we first reported two novel mutations in the FREM2 gene associated with the risk of Fraser syndrome. Moreover, we described a next-generation sequencing-based single nucleotide polymorphism haplotyping method to select the 'right' embryos from patients with Fraser syndrome for in vitro fertilization and embryo transfer treatment.
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