ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 41 citations in OpenAlex.
- A Novel Bi-Allelic Mutation in the Paired Box 7 Gene Causing Congenital Myopathy 19 in an Indian Family.Annals of Indian Academy of Neurology · 2026Article
- Epigenetic, Genetic, and Functional Germline Alterations ofCurrent issues in molecular biology · 2026Review
- Biallelic PAX7 variants cause a novel Satellite Cell-opathy with progressive muscle involvement resembling facioscapulohumeral muscular dystrophy.Cell death & disease · 2026Article
- Genetic disruption of satellite cell function underlying congenital myopathies.Journal of human genetics · 2025Review
- AAV capsids target muscle-resident cells with different efficiencies-A comparative study between AAV8, AAVMYO, and AAVMYO2.Molecular therapy. Methods & clinical development · 2025Article
- PIGK defects induce apoptosis in Purkinje cells and acceleration of neuroectodermal differentiation.Cell death & disease · 2024Article
- Distinct whole-body muscle MRI imaging patterns in PAX7-congenital myopathy: A case report.Journal of neuromuscular diseases · 2024Article
- Chromatin remodeller Chd7 is developmentally regulated in the neural crest by tissue-specific transcription factors.PLoS biology · 2024Article
- Transcriptomic gene signatures measure satellite cell activity in muscular dystrophies.iScience · 2024Article
- Review
- Impaired muscle stem cell function and abnormal myogenesis in acquired myopathies.Bioscience reports · 2023Review
- The Notch signaling pathway in skeletal muscle health and disease.Muscle & nerve · 2022Review
- Insights into muscle stem cell dynamics during postnatal development.The FEBS journal · 2022Review
- Muscle stem cell adaptations to cellular and environmental stress.Skeletal muscle · 2022Review
- Defining and identifying satellite cell-opathies within muscular dystrophies and myopathies.Experimental cell research · 2022Article
- Developmental disorders caused by haploinsufficiency of transcriptional regulators: a perspective based on cell fate determination.Biology open · 2022Article
- Extracellular matrix: Brick and mortar in the skeletal muscle stem cell niche.Frontiers in cell and developmental biology · 2022Review
- Fibro-adipogenic progenitors in skeletal muscle homeostasis, regeneration and diseases.Open biology · 2021Review
- Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: roles of DUX4 and PAX7.EMBO molecular medicine · 2021Review
- Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients.The Journal of experimental medicine · 2021Article
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Authors and funding
36 authors at 16 institutions in 6 countries.
Funding
Abstract
purposeSkeletal muscle growth and regeneration rely on muscle stem cells, called satellite cells. Specific transcription factors, particularly PAX7, are key regulators of the function of these cells. Knockout of this factor in mice leads to poor postnatal survival; however, the consequences of a lack of PAX7 in humans have not been established.
methodsHere, we study five individuals with myopathy of variable severity from four unrelated consanguineous couples. Exome sequencing identified pathogenic variants in the PAX7 gene. Clinical examination, laboratory tests, and muscle biopsies were performed to characterize the disease.
resultsThe disease was characterized by hypotonia, ptosis, muscular atrophy, scoliosis, and mildly dysmorphic facial features. The disease spectrum ranged from mild to severe and appears to be progressive. Muscle biopsies showed the presence of atrophic fibers and fibroadipose tissue replacement, with the absence of myofiber necrosis. A lack of PAX7 expression was associated with satellite cell pool exhaustion; however, the presence of residual myoblasts together with regenerating myofibers suggest that a population of PAX7-independent myogenic cells partially contributes to muscle regeneration.
conclusionThese findings show that biallelic variants in the master transcription factor PAX7 cause a new type of myopathy that specifically affects satellite cell survival.
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