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Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.
Eur J Pediatr
December 2024
Department of Medical Genetics, Dr. Behçet Uz Children's Hospital, Izmir, Turkey.
Unlabelled: The RASopathies are a group of disorders resulting from a germline variant in the genes encoding the Ras/mitogen-activated protein kinase pathway. These disorders include Noonan syndrome (NS), cardiofaciocutaneous syndrome (CFC), Costello syndrome (CS), Legius syndrome (LS), and neurofibromatosis type 1 (NF1), and have overlapping clinical features due to RAS/MAPK dysfunction. In this study, we aimed to describe the clinical and molecular features of patients exhibiting phenotypic manifestations consistent with RASopathies.
View Article and Find Full Text PDFBackground: Cardiofaciocutaneous syndrome (CFC) is a rare disorder with multiple congenital anomalies including macrocephaly, failure to thrive, and neurocognitive delay. CFC is part "RASopathy" syndromes caused by pathogenic germline variants in and To estimate cancer risk in CFC we conducted a systematic review using case reports and series.
Methods: We reviewed articles and abstracted CFC cases to form a retrospective cohort based on PRISMA guidelines.
Cardio-facio-cutaneous Syndrome with Severe Inflammatory Cutaneous Lesions: Dramatic Effect of Dupilumab.
Acta Derm Venereol
September 2024
Department of Dermatology, Reference Center for Rare Skin Diseases, Toulouse, France.
Biomarker Landscape in RASopathies.
Int J Mol Sci
August 2024
Laboratory of Functional Genetics of Rare Diseases, Department of Microbiology and Genetics, University of Salamanca (USAL), 37007 Salamanca, Spain.
Article Synopsis
- * Recent studies focus on molecular profiling of RASopathies beyond just gene mutations, exploring mRNAs, non-coding RNAs, protein patterns, and metabolic signatures important for better understanding and treatment.
- * The review highlights the importance of both molecular and physiological biomarkers for RASopathies, advocating for future research that emphasizes thorough validation and clinical application of these biomarkers.
Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1 -related RASopathy.
Am J Med Genet A
January 2025
Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis, St. Louis, Missouri, USA.
We report three unrelated individuals with atypical clinical findings for cardio-facio-cutaneous (CFC) syndrome, all of whom have the same novel, heterozygous de novo p.H119Y (c.355 C>T) transition variant in MAP2K1, identified by exome sequencing.
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