Fetal akinesia deformation sequence (FADS) is a broad spectrum of syndromes characterized by reduced or loss of fetal movement, arthrogryposis, intrauterine growth restriction and developmental abnormalities.
In this study, we identified a novel gene, MuSK (muscle-specific receptor tyrosine kinase), by whole exome sequencing in a Swedish family trio with fetuses affected by FADS. MuSK is important for the maintenance and development of the neuromuscular junction (NMJ) and the clinical phenotype of the fetuses described here is similar to many previously reported fetuses with mutations involved in the NMJ pathway. Present results can be used in prenatal screening or preimplantation genetic diagnosis when FADS associated with NMJ is suspected. (By Dr. Maria Wilbe, http://jmg.bmj.com/content/early/2015/01/23/jmedgenet-2014-102730 )Doc3