Compound heterozygous mutation of MUSK causing fetal akinesia deformation sequence syndrome: A case report

Figure 1 An affected family history pedigree. Ultrasound and genetic data revealed a frameshift mutation in muscle, skeletal receptor tyrosine kinase. A: Pedigree of affected family highlights two affected fetuses; B: Photograph of a fetus with fetal akinesia deformation sequence (FADS) from the second pregnancy after an abortion at 25 gestational weeks; C: The second pregnancy displayed polyhydramnios fetal hydrops and micrognathia; D: Sanger sequencing revealed that the mother and father had different heterozygous mutations, and the fetus had a compound heterozygous mutation; E: Mutation sites of c.421delC and c.220C > T in each species and conserved region; F: Mutation sites of Pro141Hisfs*15 and p. R74W in each species and conserved region; G: Domain structure of muscle, skeletal receptor tyrosine kinase (MUSK) protein and other mutations in MUSK previously reported to cause FADS.