6533b82cfe1ef96bd128ece4

RESEARCH PRODUCT

Fetal akinesia caused by a novel actin filament aggregate myopathy skeletal muscle actin gene (ACTA1) mutation.

Stephanie HuppmannNigel G. LaingAndrea LouiWolfram KressJohn C. SparrowN. SariogluStefan ProkopFrank L. HeppnerWerner StenzelHans H. GoebelHans H. Goebel

subject

AdultSarcomeresmacromolecular substancesBiologymedicine.disease_causeSarcomereNemaline myopathyPregnancymedicineHumansMyopathyMuscle SkeletalGenetics (clinical)ActinMutationMuscle biopsymedicine.diagnostic_testMicrofilament ProteinsInfant NewbornSkeletal muscleDNANeuromuscular DiseasesActin cytoskeletonmedicine.diseaseMolecular biologyActin CytoskeletonFetal Diseasesmedicine.anatomical_structureNeurologyBiochemistryPediatrics Perinatology and Child HealthMutationFemaleNeurology (clinical)medicine.symptom

description

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.

yearjournalcountryeditionlanguage
2010-08-01Neuromuscular disorders : NMD
10.1016/j.nmd.2010.06.008https://pubmed.ncbi.nlm.nih.gov/20621480