5. Conclusion
We described a novel compound heterozygous mutation in MuSK gene which can lead to FADS, and described the genotype-phenotype relationship between MuSK and FADS, and further expanded the genes associated with FADS. These would offer a new opportunity for prenatal genetic testing. Mutation of MuSKgene can cause FADS, which is related to acetylcholine receptor disruption and inherited by autosomal recessive genetic disease. Considering Karyotype analysis and CMA were unable to detect single base variation, whole exon sequencing could provide a new diagnostic method for this type of mutation. A prenatal investigation is essential to not only identify an underlying FADS but also provide information regarding its prognosis and inheritance. Preimplantation genetic diagnosis (PGD) or early prenatal diagnosis is recommended for the next pregnancy to the affected couples.