Taken together, the results strongly support a causal role of this founder mutation in MUSK, further expanding the gene set associated with FADS and offering new opportunities for prenatal genetic testing.Top of pageIntroductionFetal akinesia deformation sequence (FADS; MIM 208150) represents a group of disorders characterized by decreased or absent fetal movements. Affected infants may die in utero or shortly after birth due to severe pulmonary hypoplasia. FADS was first recognized in 1974 by Pena and Shokeir, and therefore was originally called the Pena syndrome.1, 2 The etiology of FADS is heterogeneous, including neuromuscular disorders, metabolic diseases, syndromic and environmental causes.3 Mutations in genes expressed at the neuromuscular junction (NMJ) are increasingly recognized as important causes of FADS, including CHRNA1 (MIM 100690), CHRND (MIM 100720), CHRNG (MIM 100730), DOK7 (MIM 610285) and RAPSN (MIM 601592).3 These genes however explain a minority of cases: in a cohort of 59 kindreds with Lethal Multiple Pterygium Syndrome (LMPS 253290 and FADS, it was estimated that 24 were positive for mutations in either of these genes.4Here we describe a novel founder mutation in MUSK, encoding a muscle specific tyrosine kinase essential for NMJ development5 as a frequent cause of lethal FADS in a Dutch genetic isolate. ! where can i buy botanical slimming soft ge in gainesville SOM comprises the partial or well decomposed residues of organic biomass present in soil. SOM gives topsoil its deep black colors and rich aromas that many home gardeners and farmers of grassland soils are familiar with. Surface soils are composed of approximately 1 to 6% organic matter, with SOM decreasing with depth (Brady Weil 2002).
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