Fetal akinesia caused by a novel actin filament aggregate myopathy skeletal muscle actin gene (ACTA1) mutation.
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.
Stenzel
Werner
W
Institute of Neuropathology, Charité University Medicine, Berlin, Germany. werner.stenzel@charite.de
Prokop
Stefan
S
Kress
Wolfram
W
Huppmann
Stephanie
S
Loui
Andrea
A
Sarioglu
Nanette M E
NM
Laing
Nigel G
NG
Sparrow
John C
JC
Heppner
Frank L
FL
Goebel
Hans H
HH
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
C497360:AFAP1 protein, human; D008840:Microfilament Proteins; D004247:DNA