Research & Literature

Cardiac Manifestations and Associations with Gene Mutations in Patients Diagnosed with RASopathies.

Jhang WK, Choi JH, Lee BH, et al.

Pediatric cardiology 2016; (37(8)):1539-1547 doi:10.1007/s00246-016-1468-6.

Variability in clinical and neuropsychological features of individuals with MAP2K1 mutations.

Pierpont EI, Semrud-Clikeman M, Pierpont ME

American journal of medical genetics. Part A 2017; (173(2)):452-459 doi:10.1002/ajmg.a.38044.

Mek1Y130C mice recapitulate aspects of human cardio-facio-cutaneous syndrome.

Aoidi R, Houde N, Landry-Truchon K, et al.

Disease models & mechanisms 2018; (11(3)) doi:10.1242/dmm.031278.

MAP2K2 mutation as a cause of cardio-facio-cutaneous syndrome in an infant with a severe and fatal course of the disease.

Gos M, Smigiel R, Kaczan T, et al.

American journal of medical genetics. Part A 2018; (176(7)):1670-1674 doi:10.1002/ajmg.a.38837.

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients.

Bessis D, Morice-Picard F, Bourrat E, et al.

The British journal of dermatology 2019; (180(1)):172-180 doi:10.1111/bjd.17077.

Comparison of hair manifestations in cardio-facio-cutaneous and Costello syndromes highlights the influence of the RAS pathway on hair growth.

Urban J, Qi L, Zhao H, et al.

Journal of the European Academy of Dermatology and Venereology : JEADV 2020; (34(3)):601-607 doi:10.1111/jdv.16082.

Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan.

Lee CL, Tan LTH, Lin HY, et al.

American journal of medical genetics. Part A 2020; (182(2)):357-364 doi:10.1002/ajmg.a.61429.

Cardio-facio-cutaneous syndrome-associated pathogenic MAP2K1 variants activate autophagy.

Chen J, Che L, Xu C, et al.

Gene 2020; (733()):144369 doi:10.1016/j.gene.2020.144369.

Anesthetic Management of a Pediatric Patient With Cardiofaciocutaneous Syndrome.

Shionoya Y, Yamamoto M, Sunada K, Nakamura K

Anesthesia progress 2020; (67(1)):45-47 doi:10.2344/anpr-67-01-07.

Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status.

Leoni C, Romeo DM, Pelliccioni M, et al.

Orphanet journal of rare diseases 2021; (16(1)):43 doi:10.1186/s13023-021-01674-y.

Anesthesia management of pediatric dentistry patients with cardiofaciocutaneous syndrome: a case report.

Gonnella GL, Giuri PP, Zanfini BA, et al.

Brazilian journal of anesthesiology (Elsevier) 2021; (71(2)):178-180 doi:10.1016/j.bjane.2020.10.013.

Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in MAP2K1 - Case Study.

Kosztyła-Hojna B, Borys J, Zdrojkowski M, et al.

The application of clinical genetics 2021; (14()):389-398 doi:10.2147/TACG.S316215.

Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.

Battaglia DI, Gambardella ML, Veltri S, et al.

Genes 2021; (12(9)) doi:10.3390/genes12091316.

Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management.

Lioncino M, Monda E, Verrillo F, et al.

Heart failure clinics 2022; (18(1)):19-29 doi:10.1016/j.hfc.2021.07.004.

Characterization of bone homeostasis in individuals affected by cardio-facio-cutaneous syndrome.

Leoni C, Viscogliosi G, Onesimo R, et al.

American journal of medical genetics. Part A 2022; (188(2)):414-421 doi:10.1002/ajmg.a.62588.

Cardiofaciocutaneous syndrome - a longitudinal study of a case over 33 years: case report and review of the literature.

Jurcă MC, Iuhas OA, Puiu M, et al.

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie 2021; (62(2)):563-568 doi:10.47162/RJME.62.2.23.

MEK Inhibition in a Newborn with RAF1-Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease.

Mussa A, Carli D, Giorgio E, et al.

Genes 2021; (13(1)) doi:10.3390/genes13010006.

RASopathies: Dermatologists' viewpoints.

Palit A, Inamadar AC

Indian journal of dermatology, venereology and leprology 2022; (88(4)):452-463.

Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene.

Serra G, Felice S, Antona V, et al.

Italian journal of pediatrics 2022; (48(1)):65 doi:10.1186/s13052-022-01241-6.

Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort study.

Pierpont EI, Kenney-Jung DL, Shanley R, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2022; (24(7)):1556-1566 doi:10.1016/j.gim.2022.04.004.

Fibrous dysplasia in cardio-facio-cutaneous syndrome: A case report and review of literature.

Dong X, Png NCY, Fortier MV, et al.

American journal of medical genetics. Part A 2022; (188(9)):2732-2737 doi:10.1002/ajmg.a.62879.

Prevalence of gastrointestinal disorders in individuals with RASopathies: May RAS/MAP/ERK pathway dysfunctions be a model of neuropathic pain and visceral hypersensitivity?

Leoni C, Giorgio V, Stella G, et al.

American journal of medical genetics. Part A 2022; (188(11)):3287-3293 doi:10.1002/ajmg.a.62917.

Severe neuroglycopenic symptoms due to nonketotic hypoglycemia in children with cardio-facio-cutaneous syndrome.

Shiohama T, Fujii K, Kosaki R, et al.

American journal of medical genetics. Part A 2022; (188(12)):3505-3509 doi:10.1002/ajmg.a.62926.

Case report: The cardio-facio-cutaneous syndrome due to a novel germline mutation in MAP2K1: A multifaceted disease with immunodeficiency and short stature.

Szczawińska-Popłonyk A, Popłonyk N, Niedziela M, et al.

Frontiers in pediatrics 2022; (10()):990111 doi:10.3389/fped.2022.990111.

Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype.

Kenney-Jung DL, Rogers DJ, Kroening SJ, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2022; (190(4)):501-509 doi:10.1002/ajmg.c.32022.

Central nervous system involvement in individuals with RASopathies.

Weaver KN, Gripp KW

American journal of medical genetics. Part C, Seminars in medical genetics 2022; (190(4)):494-500 doi:10.1002/ajmg.c.32023.

Bone health in RASopathies.

Stevenson DA, Viscogliosi G, Leoni C

American journal of medical genetics. Part C, Seminars in medical genetics 2022; (190(4)):459-470 doi:10.1002/ajmg.c.32020.

Management of nutritional and gastrointestinal issues in RASopathies: A narrative review.

Onesimo R, Giorgio V, Viscogliosi G, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2022; (190(4)):478-493 doi:10.1002/ajmg.c.32019.

Dermatological manifestations, management, and care in RASopathies.

Kavamura MI, Leoni C, Neri G

American journal of medical genetics. Part C, Seminars in medical genetics 2022; (190(4)):452-458 doi:10.1002/ajmg.c.32027.

Case report: Gastroenterological management in a case of cardio-facio-cutaneous syndrome.

Ciacchini B, Di Nardo G, Marin M, et al.

Frontiers in pediatrics 2023; (11()):1160147 doi:10.3389/fped.2023.1160147.

The "FEEDS (FEeding Eating Deglutition Skills)" over Time Study in Cardiofaciocutaneous Syndrome.

Onesimo R, Sforza E, Giorgio V, et al.

Genes 2023; (14(7)) doi:10.3390/genes14071338.

Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients.

Feng B, Li X, Zhang Q, et al.

Orphanet journal of rare diseases 2023; (18(1)):284 doi:10.1186/s13023-023-02878-0.

Systematic ophthalmologic evaluation in cardio-facio-cutaneous syndrome: A genotype-endophenotype correlation.

Crincoli E, Leoni C, Viscogliosi G, et al.

American journal of medical genetics. Part A 2023; (191(11)):2783-2792 doi:10.1002/ajmg.a.63395.

Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies.

Serbinski CR, Vanderwal A, Chadwell SE, et al.

American journal of medical genetics. Part A 2024; (194(2)):195-202 doi:10.1002/ajmg.a.63397.

Status epilepticus in BRAF-related cardio-facio-cutaneous syndrome: Focus on neuroimaging clues to physiopathology.

Musto E, Gambardella ML, Perulli M, et al.

Epilepsia open 2024; (9(1)):258-267 doi:10.1002/epi4.12864.

Skeletal defects and bone metabolism in Noonan, Costello and cardio-facio-cutaneous syndromes.

Papadopoulou A, Bountouvi E

Frontiers in endocrinology 2023; (14()):1231828 doi:10.3389/fendo.2023.1231828.

Natural history and outcomes in paediatric RASopathy-associated hypertrophic cardiomyopathy.

Boleti O, Norrish G, Field E, et al.

ESC heart failure 2024; (11(2)):923-936 doi:10.1002/ehf2.14637.

Long-term clinical course of adult-onset refractory epilepsy in cardiofaciocutaneous syndrome with a pathogenic MAP2K1 variant: a case report.

Tsuburaya-Suzuki R, Ohori S, Hamanaka K, et al.

Frontiers in genetics 2024; (15()):1410979 doi:10.3389/fgene.2024.1410979.

Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1 -related RASopathy.

Grange DK, Wegner DJ, Wambach JA, et al.

American journal of medical genetics. Part A 2025; (197(1)):e63854 doi:10.1002/ajmg.a.63854.

A Literature Review and Pooled Case Analysis of Cardiofaciocutaneous Syndrome to Estimate Cancer Risk.

Bess J, Brown T, Bhala S, et al.

medRxiv : the preprint server for health sciences 2024; doi:10.1101/2024.08.09.24311751.

A literature review and pooled case analysis of cardiofaciocutaneous syndrome to estimate cancer risk.

Bess J, Brown T, Bhala S, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2025; (27(7)):101423 doi:10.1016/j.gim.2025.101423.

Role of Histopathology of Skin Lesions in Diagnosing MAP2K1-Positive Cardiofaciocutaneous Syndrome.

Rajyalakshmi R, Venkata Lakshmi C, Rajani V

The American Journal of dermatopathology 2025; (47(9)):e104-e110 doi:10.1097/DAD.0000000000003015.

Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort.

Di Majo BE, Leoni C, Cartisano E, et al.

Frontiers in immunology 2025; (16()):1598896 doi:10.3389/fimmu.2025.1598896.

Combined Immunodeficiency Associated With MAP2K1 p.Tyr130His Variant in Cardiofaciocutaneous Syndrome: A Case Report With Literature-Based Phenotypic Comparison.

Kökcü Karadağ Şİ, Topçak AB, Türkmenoğlu Y, et al.

Scandinavian journal of immunology 2026; (103(2)):e70101 doi:10.1111/sji.70101.

Clinical and Molecular Portraits of Pediatric RASopathies: A Study of 118 Genotype-Confirmed Cases.

Genç A, Sarıkaya E, Ceylan AC, et al.

Clinical genetics 2026; (110(3)):299-314 doi:10.1111/cge.70193.

Solid tumours in RASopathies: insights from a large monocentric cohort and systematic review of the literature.

Trevisan V, Viscogliosi G, Perri L, et al.

Journal of medical genetics 2026; doi:10.1136/jmg-2026-111658.