ArticleAmerican journal of human genetics2016
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
Article in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
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Who cites it
46 citing papers in PubMed, 107 citations in OpenAlex.
- FGFR alterations and potential role of FGFR inhibitors in pediatric brain tumors.Neuro-oncology advances · 2026Review
- A 2-month-old infant with an alopecic plaque.JAAD case reports · 2026Article
- Concurrence of FGFR1 mutations modulates oncogenesis in glioneuronal tumors.The EMBO journal · 2025Article
- Histopathologic Features and Molecular Markers of Encephalocraniocutaneous Lipomatosis (ECCL).Dermatopathology (Basel, Switzerland) · 2025Review
- Encephalocraniocutaneous lipomatosis-a neuroradiological perspective.Pediatric radiology · 2025Article
- Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing.NPJ genomic medicine · 2025Article
- Functional hemispherectomy for seizure control in encephalocraniocutaneous lipomatosis: illustrative case.Journal of neurosurgery. Case lessons · 2025Article
- Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants.PLoS genetics · 2025Article
- Haberland Syndrome (Encephalocraniocutaneous Lipomatosis) with Development of Diffuse Leptomeningeal Glioneural Tumor (DL-GNT) during Adolescence.Clinical neuroradiology · 2024Article
- Pharmacological and Biological Targeting of FGFR1 in Cancer.Current issues in molecular biology · 2024Review
- Paediatric low-grade glioma: the role of classical pathology in integrated diagnostic practice.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Review
- Human embryonic genetic mosaicism and its effects on development and disease.Nature reviews. Genetics · 2024Review
- Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib.Life (Basel, Switzerland) · 2024Review
- Article
- Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes.Human genetics · 2024Article
- Article
- DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data.Annual review of genomics and human genetics · 2023Review
- Mendelian inheritance revisited: dominance and recessiveness in medical genetics.Nature reviews. Genetics · 2023Review
- Encephalocraniocutaneous Lipomatosis, a Radiological Challenge: Two Atypical Case Reports and Literature Review.Brain sciences · 2022Article
- Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery.American journal of human genetics · 2022Review
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Authors and funding
27 authors at 14 institutions in 9 countries.
Funding
Abstract
Encephalocraniocutaneous lipomatosis (ECCL) is a sporadic condition characterized by ocular, cutaneous, and central nervous system anomalies. Key clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, and central nervous system lipomas. Seizures, spasticity, and intellectual disability can be present, although affected individuals without seizures and with normal intellect have also been reported. Given the patchy and asymmetric nature of the malformations, ECCL has been hypothesized to be due to a post-zygotic, mosaic mutation. Despite phenotypic overlap with several other disorders associated with mutations in the RAS-MAPK and PI3K-AKT pathways, the molecular etiology of ECCL remains unknown. Using exome sequencing of DNA from multiple affected tissues from five unrelated individuals with ECCL, we identified two mosaic mutations, c.1638C>A (p.Asn546Lys) and c.1966A>G (p.Lys656Glu) within the tyrosine kinase domain of FGFR1, in two affected individuals each. These two residues are the most commonly mutated residues in FGFR1 in human cancers and are associated primarily with CNS tumors. Targeted resequencing of FGFR1 in multiple tissues from an independent cohort of individuals with ECCL identified one additional individual with a c.1638C>A (p.Asn546Lys) mutation in FGFR1. Functional studies of ECCL fibroblast cell lines show increased levels of phosphorylated FGFRs and phosphorylated FRS2, a direct substrate of FGFR1, as well as constitutive activation of RAS-MAPK signaling. In addition to identifying the molecular etiology of ECCL, our results support the emerging overlap between mosaic developmental disorders and tumorigenesis.
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