RASopathies for Radiologists
Radiographics. 2024 May;44(5):e230153. doi: 10.1148/rg.230153.ABSTRACTRASopathies are a heterogeneous group of genetic syndromes caused by germline mutations in a group of genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) signaling pathway. RASopathies include neurofibromatosis type 1, Legius syndrome, Noonan syndrome, Costello syndrome, cardiofaciocutaneous syndrome, central conducting lymphatic anomaly, and capillary malformation-arteriovenous malformation syndrome. These disorders are grouped together as RASopathies based on our current understanding of the Ras/MAPK pathway. A...
Source: Cancer Control - April 11, 2024 Category: Cancer & Oncology Authors: Atsuhiko Handa Yuko Tsujioka Gen Nishimura Taiki Nozaki Tatsuo Kono Masahiro Jinzaki Taylor Harms Susan A Connolly Takashi Shawn Sato Yutaka Sato Source Type: research
Autism spectrum disorder profiles in RASopathies: A systematic review
CONCLUSIONS: Our systematic review found no convincing evidence for a specific ASD profile in RASopathies compared to iASD, or in a specific RASopathy compared to other RASopathies. However, we identified important limitations in the research literature which may also account for this result. These limitations are discussed and recommendations for future research are formulated.PMID:38581124 | PMC:PMC10997847 | DOI:10.1002/mgg3.2428 (Source: Molecular Medicine)
Source: Molecular Medicine - April 6, 2024 Category: Molecular Biology Authors: Edward Debbaut Jean Steyaert Mouna El Bakkali Source Type: research
Autism spectrum disorder profiles in RASopathies: A systematic review
CONCLUSIONS: Our systematic review found no convincing evidence for a specific ASD profile in RASopathies compared to iASD, or in a specific RASopathy compared to other RASopathies. However, we identified important limitations in the research literature which may also account for this result. These limitations are discussed and recommendations for future research are formulated.PMID:38581124 | PMC:PMC10997847 | DOI:10.1002/mgg3.2428 (Source: Molecular Medicine)
Source: Molecular Medicine - April 6, 2024 Category: Molecular Biology Authors: Edward Debbaut Jean Steyaert Mouna El Bakkali Source Type: research
Autism spectrum disorder profiles in RASopathies: A systematic review
ConclusionsOur systematic review found no convincing evidence for a specific ASD profile in RASopathies compared to iASD, or in a specific RASopathy compared to other RASopathies. However, we identified important limitations in the research literature which may also account for this result. These limitations are discussed and recommendations for future research are formulated. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 6, 2024 Category: Genetics & Stem Cells Authors: Edward Debbaut,
Jean Steyaert,
Mouna El Bakkali Tags: REVIEW ARTICLE Source Type: research
Natural history and outcomes in paediatric RASopathy ‐associated hypertrophic cardiomyopathy
ConclusionsThese findings highlight a distinct category of patients with Noonan-like syndrome with a milder HCM phenotype but significantly worse survival and identify potential predictors of adverse outcome in patients with RASopathy-related HCM. (Source: ESC Heart Failure)
Source: ESC Heart Failure - January 14, 2024 Category: Cardiology Authors: Olga Boleti,
Gabrielle Norrish,
Ella Field,
Kathleen Dady,
Kim Summers,
Gauri Nepali,
Vinay Bhole,
Orhan Uzun,
Amos Wong,
Piers E. F. Daubeney,
Graham Stuart,
Precylia Fernandes,
Karen McLeod,
Maria Ilina,
Muhammad Najih Liaqath Ali,
Tara B Tags: Original Article Source Type: research
Torpedo maculopathy in Costello syndrome
J Fr Ophtalmol. 2023 Nov 27:S0181-5512(23)00490-4. doi: 10.1016/j.jfo.2023.09.011. Online ahead of print.NO ABSTRACTPMID:38016869 | DOI:10.1016/j.jfo.2023.09.011 (Source: Journal Francais d Ophtalmologie)
Source: Journal Francais d Ophtalmologie - November 28, 2023 Category: Opthalmology Authors: M Bouladi A Ben Othmen G Dhouha L El Fekih Source Type: research
Genes, Vol. 14, Pages 2111: The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic & ndash;Therapeutic Implications
Genes, Vol. 14, Pages 2111: The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic–Therapeutic Implications
Genes doi: 10.3390/genes14122111
Authors:
Giovanna Scorrano
Emanuele David
Elisa Calì
Roberto Chimenz
Saverio La Bella
Armando Di Ludovico
Gabriella Di Rosa
Eloisa Gitto
Kshitij Mankad
Rosaria Nardello
Giuseppe Donato Mangano
Chiara Leoni
Giorgia Ceravolo
Cardiofaciocutaneous (CFC) syndrome is one of the rarest RASopathies characterized by multiple congenital ectodermal, cardiac and craniofacial abnormalities with a mild to severe ocular, gastrointestinal and neurolo...
Source: Genes - November 22, 2023 Category: Genetics & Stem Cells Authors: Giovanna Scorrano Emanuele David Elisa Cal ì Roberto Chimenz Saverio La Bella Armando Di Ludovico Gabriella Di Rosa Eloisa Gitto Kshitij Mankad Rosaria Nardello Giuseppe Donato Mangano Chiara Leoni Giorgia Ceravolo Tags: Review Source Type: research
Fatal leukodystrophy in Costello syndrome: a case report
Costello syndrome (CS) is a rare genetic condition characterized by dysregulation of the signaling pathway, phenotypic alteration due to fetal macrosomia or growth retardation, facial abnormalities, loose skin... (Source: BMC Pediatrics)
Source: BMC Pediatrics - July 24, 2023 Category: Pediatrics Authors: Virgilio E. Failoc-Rojas, Piero A. Quiroz Ugaz, Dante A. Loconi Le ón and Sandra Zeña-Ñañez Tags: Case report Source Type: research
Papillomas of Costello syndrome are not associated with human papillomavirus infection in a small case series
To the Editor: Costello syndrome (CS) is caused by a pathogenic variant in the regulatory HRAS gene, leading to constitutive activation of the RAS/mitogen-activated protein kinase cell signaling pathway. Dysregulation of RAS/mitogen-activated protein kinase has long been implicated in cancer pathogenesis, but more recently it has been identified as the cause of several developmental syndromes termed RASopathies, which include CS. Due to the ubiquitous expression of HRAS, patients with CS can have multiorgan sequelae, including growth and developmental delays, cardiac anomalies, and neurologic issues. (Source: Journal of th...
Source: Journal of the American Academy of Dermatology - April 5, 2023 Category: Dermatology Authors: Gerilyn M. Olsen, Luke Johnson, Pau Castel, David A. Stevenson, Kevin White, Yvonne E. Chiu, Alfons Krol, Dawn H. Siegel Tags: Research letter Source Type: research
Papillomas of Costello syndrome are not associated with human papillomavirus (HPV) infection in a small case series
(Source: Journal of the American Academy of Dermatology)
Source: Journal of the American Academy of Dermatology - April 5, 2023 Category: Dermatology Authors: Gerilyn M. Olsen, Luke Johnson, Pau Castel, David A. Stevenson, Kevin White, Yvonne E. Chiu, Alfons Krol, Dawn H. Siegel Source Type: research
Cancer in Costello syndrome: a systematic review and meta-analysis
British Journal of Cancer, Published online: 25 March 2023; doi:10.1038/s41416-023-02229-7Cancer in Costello syndrome: a systematic review and meta-analysis (Source: British Journal of Cancer)
Source: British Journal of Cancer - March 25, 2023 Category: Cancer & Oncology Authors: Esteban Astiazaran-Symonds Gina M. Ney Cecilia Higgs Leatrisse Oba Radhika Srivastava Alicia A. Livinski Philip S. Rosenberg Douglas R. Stewart Source Type: research
Refining nosology by modelling variation among facial phenotypes: the RASopathies
Conclusions
We established an approach that can be used in the future to quantify variations in facial phenotypes between and within clinical and molecular diagnoses to objectively define and support clinical nosologies. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - February 23, 2023 Category: Genetics & Stem Cells Authors: Matthews, H., Vanneste, M., Katsura, K., Aponte, D., Patton, M., Hammond, P., Baynam, G., Spritz, R., Klein, O. D., Hallgrimsson, B., Peeters, H., Claes, P. Tags: Phenotypes Source Type: research
