ArticleEuropean journal of human genetics : EJHG2015
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 54 citations in OpenAlex.
- Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.The Journal of clinical investigation · 2016Trial
- Review of 40 genes causing congenital myasthenic syndromes.Journal of human genetics · 2025Review
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- Genome-wide association study of the common retinal disorder epiretinal membrane: Significant risk loci in each of three American populations.Cell genomics · 2024Article
- Alteration of actin cytoskeletal organisation in fetal akinesia deformation sequence.Scientific reports · 2024Article
- Molecular and spatial landmarks of early mouse skin development.Developmental cell · 2023Article
- Vocal Cord Paralysis and Feeding Difficulties as Early Diagnostic Clues of Congenital Myasthenic Syndrome with Neonatal Onset: A Case Report and Review of Literature.Journal of personalized medicine · 2023Review
- Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.International journal of molecular sciences · 2023Review
- Article
- Association of regular aerobic exercises and neuromuscular junction variants with incidence of frailty: an analysis of the Chinese Longitudinal Health and Longevity Survey.Journal of cachexia, sarcopenia and muscle · 2021Article
- Fetal akinesia deformation sequence with pontocerebellar hypoplasia, and migration and gyration defects.Autopsy & case reports · 2021Article
- Centrosome and ciliary abnormalities in fetal akinesia deformation sequence human fibroblasts.Scientific reports · 2020Article
- Genome-wide scan for common variants associated with intramuscular fat and moisture content in rainbow trout.BMC genomics · 2020Article
- Multiple MuSK signaling pathways and the aging neuromuscular junction.Neuroscience letters · 2020Review
- Compound heterozygous mutation ofWorld journal of clinical cases · 2019Article
- Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence.Experimental neurology · 2019Article
- Disease gene prediction for molecularly uncharacterized diseases.PLoS computational biology · 2019Article
- Genome-wide detection of copy number variations in polled yak using the Illumina BovineHD BeadChip.BMC genomics · 2019Article
- Autistic-Like Traits in Pena-Shokeir Syndrome.Journal of autism and developmental disorders · 2019Article
- Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence.PLoS genetics · 2018Article
Corrections and comments
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Authors and funding
14 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. FADS can result from mutations in CHRNG, CHRNA1, CHRND, DOK7 and RAPSN; however, these genes only account for a minority of cases. Here we identify MUSK as a novel cause of lethal FADS. Fourteen affected fetuses from a Dutch genetic isolate were traced back to common ancestors 11 generations ago. Homozygosity mapping in two fetuses revealed MUSK as a candidate gene. All tested cases carried an identical homozygous variant c.1724T>C; p.(Ile575Thr) in the intracellular domain of MUSK. The carrier frequency in the genetic isolate was 8%, exclusively found in heterozygous carriers. Consistent with the established role of MUSK as a tyrosine kinase that orchestrates neuromuscular synaptogenesis, the fetal myopathy was accompanied by impaired acetylcholine receptor clustering and reduced tyrosine kinase activity at motor nerve endings. A functional assay in myocytes derived from human fetuses confirmed that the variant blocks MUSK-dependent motor endplate formation. 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.
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