title: Fetal akinesia caused by a novel actin filament aggregate myopathy skeletal muscle actin gene (ACTA1) mutation.
abstract: We report a female newborn, diagnosed with fetal akinesia in utero, who died one hour after birth. Post-mortem muscle biopsy demonstrated actin-filament myopathy based on immunolabelling for sarcomeric actin, and large areas of filaments, without rod formation, ultrastructurally. Analysis of DNA extracted from the muscle disclosed a novel de novo heterozygous c.44G>A, GGC>GAC, 'p.Gly15Asp' mutation in the ACTA1 gene. Analysis of the location of the mutated amino-acid in the actin molecule suggests the mutation most likely causes abnormal nucleotide binding, and consequent pathological actin polymerization. This case emphasizes the association of fetal akinesia with actin-filament myopathy.
authors.affiliation: Institute of Neuropathology, Charité University Medicine, Berlin, Germany. werner.stenzel@charite.de
authors.forename: Werner
authors.initials: W
authors.lastname: Stenzel
authors.forename: Stefan
authors.initials: S
authors.lastname: Prokop
authors.forename: Wolfram
authors.initials: W
authors.lastname: Kress
authors.forename: Stephanie
authors.initials: S
authors.lastname: Huppmann
authors.forename: Andrea
authors.initials: A
authors.lastname: Loui
authors.forename: Nanette M E
authors.initials: NM
authors.lastname: Sarioglu
authors.forename: Nigel G
authors.initials: NG
authors.lastname: Laing
authors.forename: John C
authors.initials: JC
authors.lastname: Sparrow
authors.forename: Frank L
authors.initials: FL
authors.lastname: Heppner
authors.forename: Hans H
authors.initials: HH
authors.lastname: Goebel
mesh_terms: D008841:Actin Cytoskeleton / Q000235:genetics* / Q000473:pathology; D000328:Adult; D004247:DNA / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008840:Microfilament Proteins / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation / Q000235:genetics / Q000502:physiology; D009468:Neuromuscular Diseases / Q000235:genetics* / Q000473:pathology; D011247:Pregnancy; D012518:Sarcomeres / Q000235:genetics
chemical_list: C497360:AFAP1 protein, human; D008840:Microfilament Proteins; D004247:DNA