ArticleMolecular genetics & genomic medicine2019
Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 2 of them syntheses that pooled it.
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Who cites it
25 citing papers in PubMed, 2 syntheses or guidelines pooled it, 58 citations in OpenAlex.
- Schimmelpenning-Feuerstein-Mims syndrome: a systematic review of clinical cases to identify genotype-phenotype associations.Frontiers in medicine · 2025Pooled it
- Cancer in Multilineage Mosaic RASopathies due to Pathogenic Variants in HRAS or KRAS: A Systematic Review and Meta-analysis.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Pooled it
- Encephalocraniocutaneous lipomatosis-a neuroradiological perspective.Pediatric radiology · 2025Article
- Unveiling the complexity of Schimmelpenning-Feuerstein-Mims syndrome: A comprehensive case study.American journal of ophthalmology case reports · 2025Article
- 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
- Encephalocraniocutaneous Lipomatosis, a Radiological Challenge: Two Atypical Case Reports and Literature Review.Brain sciences · 2022Article
- A primary DICER1-sarcoma with KRAS and TP53 mutations in a child with suspected ECCL.Brain tumor pathology · 2022Article
- Identification of Codon 146International journal of molecular sciences · 2022Article
- Classification of KRAS-Activating Mutations and the Implications for Therapeutic Intervention.Cancer discovery · 2022Article
- Giant Cell Lesions of the Jaws Involving RASopathy Syndromes.Acta stomatologica Croatica · 2022Review
- Lateralized and Segmental Overgrowth in Children.Cancers · 2021Review
- Identification of a recurrent mosaicCold Spring Harbor molecular case studies · 2021Article
- A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations.Orphanet journal of rare diseases · 2021Review
- Pathogenic postzygotic mosaicism in the tyrosine receptor kinase pathway: potential unidentified human disease hidden away in a few cells.The FEBS journal · 2021Review
- Ocular manifestations of ectodermal dysplasia.Orphanet journal of rare diseases · 2021Article
- Ophthalmic Manifestation and Pathological Features in a Cohort of Patients With Linear Nevus Sebaceous Syndrome and Encephalocraniocutaneous Lipomatosis.Frontiers in pediatrics · 2021Article
- Identification of KRAS mutation in a patient with linear nevus sebaceous syndrome: a case report.BMC medical genomics · 2020Article
- Fibrous Meningioma in a Patient with Encephalocraniocutaneous Lipomatosis: A Rare Case with Unique Features.International medical case reports journal · 2020Article
- Giant Ocular Lipodermoid Cyst in Encephalocraniocutaneous Lipomatosis: Surgical Treatment and Genetic Analysis.The American journal of case reports · 2019Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPostzygotic KRAS, HRAS, NRAS, and FGFR1 mutations result in a group of mosaic RASopathies characterized by related developmental anomalies in eye, skin, heart, and brain. These oculocutaneous disorders include oculoectodermal syndrome (OES) encephalo-cranio-cutaneous lipomatosis (ECCL), and Schimmelpenning-Feuerstein-Mims syndrome (SFMS). Here, we report the results of the clinical and molecular characterization of a novel cohort of patients with oculocutaneous mosaic RASopathies.
methodsTwo OES, two ECCL, and two SFMS patients were ascertained in the study. In addition, two subjects with unilateral isolated epibulbar dermoids were also enrolled. Molecular analysis included PCR amplification and Sanger sequencing of KRAS, HRAS, NRAS, and FGFR1 genes in DNA obtained from biopsies (skin/epibulbar dermoids), buccal mucosa, and blood leukocytes. Massive parallel sequencing was employed in two cases with low-level mosaicism.
resultsIn DNA from biopsies, mosaicism for pathogenic variants, including KRAS p.Ala146Thr in two OES subjects, FGFR1 p.Asn546Lys and KRAS p.Ala146Val in ECCL patients, and KRAS p.Gly12Asp in both SFMS patients, was demonstrated. No mutations were shown in DNA from conjunctival lesions in two subjects with isolated epibubar dermoids.
conclusionOur study allowed the expansion of the clinical spectrum of mosaic RASopathies and supports that mosaicism for recurrent mutations in KRAS and FGFR1 is a commonly involved mechanism in these rare oculocutaneous anomalies.
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