ArticleAmerican journal of human genetics2013
Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 79 papers, 1 of them a synthesis that pooled it.
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Who cites it
79 citing papers in PubMed, 1 synthesis or guideline pooled it, 205 citations in OpenAlex.
- The Master of Puppets: Pleiotropy of PDGFRB and its Relationship to Multiple Diseases.Journal of molecular neuroscience : MN · 2020Pooled it
- Solitary Myofibroma of the Nasal Septum: A Rare Clinical Entity.Journal of rhinology : official journal of the Korean Rhinologic Society · 2026Article
- Cutaneous soft tissue tumors in the 5th edition of the World Health Organization classification of skin tumors: key updates and new entities.Journal of pathology and translational medicine · 2026Article
- Novel NOTCH3 alteration expanding the molecular spectrum of pericytic tumours: report of two cases.Histopathology · 2026Article
- Variable response of germline activating PDGFRB variants to receptor tyrosine kinase inhibitors: implications for treatment.European journal of human genetics : EJHG · 2025Article
- Dermatomyofibromas harbor PDGFRB mutations - another tyrosine kinase-driven neoplasm.Virchows Archiv : an international journal of pathology · 2025Article
- Analyses of NOTCH3 variants in Chinese patients with clinically diagnosed Alzheimer's disease and frontotemporal dementia.Alzheimer's research & therapy · 2025Article
- ProteinMolecules (Basel, Switzerland) · 2025Review
- Infantile myofibromatosis: Small bumps pose big problems.Journal of neonatal-perinatal medicine · 2025Article
- CADASIL orFrontiers in neurology · 2025Review
- CADASIL: A NOTCH3-associated cerebral small vessel disease.Journal of advanced research · 2024Review
- Isolated Radial Nerve Palsy in a Newborn Due to a Congenital Myofibroma: A Rare Case of Peripheral Nerve Injury.Children (Basel, Switzerland) · 2024Article
- Solitary Intraosseous Myofibroma of the Mandible in a Nine-Year-Old Child: A Case Report and Literature Review.Cureus · 2024Article
- [Analysis of 141 cases with benign upper airway occupying in infant].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2024Article
- Isolated infantile myofibroma of the calvarium: Report of a case with a literature review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Review
- Concurrent PTEN and PDGFRB Alterations Characterize Storiform Collagenoma.The American journal of surgical pathology · 2024Article
- Prenatal genetic diagnosis of disseminated infantile myofibromatosis: a case report and literature review.BMC medical genomics · 2023Review
- High-Grade Sarcomas with Myogenic Differentiation Harboring Hotspot PDGFRB Mutations.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2023Article
- Microbleed clustering in thalamus sign in CADASIL patients withFrontiers in neurology · 2023Article
- Penttinen syndrome-associated PDGFRB Val665Ala variant causes aberrant constitutive STAT1 signalling.Journal of cellular and molecular medicine · 2022Article
19 more citing papers are in PubMed but not listed here.
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28 authors at 10 institutions in 3 countries.
Funding
Abstract
Infantile myofibromatosis (IM) is a disorder of mesenchymal proliferation characterized by the development of nonmetastasizing tumors in the skin, muscle, bone, and viscera. Occurrence within families across multiple generations is suggestive of an autosomal-dominant (AD) inheritance pattern, but autosomal-recessive (AR) modes of inheritance have also been proposed. We performed whole-exome sequencing (WES) in members of nine unrelated families clinically diagnosed with AD IM to identify the genetic origin of the disorder. In eight of the families, we identified one of two disease-causing mutations, c.1978C>A (p.Pro660Thr) and c.1681C>T (p.Arg561Cys), in PDGFRB. Intriguingly, one family did not have either of these PDGFRB mutations but all affected individuals had a c.4556T>C (p.Leu1519Pro) mutation in NOTCH3. Our studies suggest that mutations in PDGFRB are a cause of IM and highlight NOTCH3 as a candidate gene. Further studies of the crosstalk between PDGFRB and NOTCH pathways may offer new opportunities to identify mutations in other genes that result in IM and is a necessary first step toward understanding the mechanisms of both tumor growth and regression and its targeted treatment.
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