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26 June 2017 : Laboratory Research  

De Novo Paternal FBN1 Mutation Detected in Embryos Before Implantation

Shuling Wang12BC, Ziru Niu3BE, Hui Wang1B, Minyue Ma1B, Wei Zhang4B, Shu Fang Wang5C, Jun Wang6C, Hong Yan3C, Yifan Liu1B, Na Duan7C, Xiandong Zhang1A, Yuanqing Yao1AE*

DOI: 10.12659/MSM.904546

Med Sci Monit 2017; 23:3136-3146

Abstract

BACKGROUND: Marfan syndrome (MFS) is an autosomal dominant disease caused by mutations in the Fibrillin (FBN)1 gene and characterized by disorders in the cardiovascular, skeletal, and visual systems. The diversity of mutations and phenotypic heterogeneity of MFS make prenatal molecular diagnoses difficult. In this study, we used pre-implantation genetic diagnosis (PGD) to identify the pathogenic mutation in a male patient with MFS and to determine whether his offspring would be free of the disease.

MATERIAL AND METHODS: The history and pedigree of the proband were analyzed. Mutation analysis was performed on the couple and immediate family members. The couple chose IVF treatment and 4 blastocysts were biopsied. PGD was carried out by targeted high-throughput sequencing of the FBN1 gene in the embryos, along with single-nucleotide polymorphism haplotyping. Sanger sequencing was used to confirm the causative mutation.

RESULTS: c.2647T>C (p.Trp883Arg) was identified as the de novo likely pathogenic mutation in the proband. Whole-genome amplification and sequencing of the 3 embryos revealed that they did not carry the mutation, and 1 blastocyst was transferred back to the uterus. The amniocentesis test result analyzed by Sanger sequencing confirmed the PGD. A premature but healthy infant free of heart malformations was born.

CONCLUSIONS: The de novo mutation c.2647T>C (p.Trp883Arg) in FBN1 was identified in a Chinese patient with MFS. Embryos without the mutation were identified by PGD and resulted in a successful pregnancy.

Keywords: Haplotypes, Marfan Syndrome, Preimplantation Diagnosis

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Medical Science Monitor eISSN: 1643-3750
Medical Science Monitor eISSN: 1643-3750