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.