Recent developments in neurofibromatoses and RASopathies: Management, diagnosis and current and future therapeutic avenues.

Katherine A Rauen; Susan M Huson; Emma Burkitt-Wright; D Gareth Evans; Said Farschtschi; Rosalie E Ferner; David H Gutmann; C Oliver Hanemann; Bronwyn Kerr; Eric Legius; Luis F Parada; Michael Patton; Juha Peltonen; Nancy Ratner; Vincent M Riccardi; Thijs van der Vaart; Miikka Vikkula; David H Viskochil; Martin Zenker; Meena Upadhyaya

doi:10.1002/ajmg.a.36793

Recent developments in neurofibromatoses and RASopathies: Management, diagnosis and current and future therapeutic avenues.

Katherine A Rauen, Susan M Huson, Emma Burkitt-Wright, D Gareth Evans, Said Farschtschi, Rosalie E Ferner, David H Gutmann, C Oliver Hanemann, Bronwyn Kerr, Eric Legius, Luis F Parada, Michael Patton, Juha Peltonen, Nancy Ratner, Vincent M Riccardi, Thijs van der Vaart, Miikka Vikkula, David H Viskochil, Martin Zenker, Meena Upadhyaya

Research output: Contribution to journal › Article › peer-review

Abstract

Neurofibromatosis type 1 (NF1) was the first RASopathy and is now one of many RASopathies that are caused by germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Their common underlying pathogenetic etiology causes significant overlap in phenotypic features which includes craniofacial dysmorphology, cardiac, cutaneous, musculoskeletal, GI and ocular abnormalities, and a predisposition to cancer. The proceedings from the symposium "Recent Developments in Neurofibromatoses (NF) and RASopathies: Management, Diagnosis and Current and Future Therapeutic Avenues" chronicle this timely and topical clinical translational research symposium. The overarching goal was to bring together clinicians, basic scientists, physician-scientists, advocate leaders, trainees, students and individuals with Ras pathway syndromes to discuss the most state-of-the-art basic science and clinical issues in an effort to spark collaborations directed towards the best practices and therapies for individuals with RASopathies. © 2014 Wiley Periodicals, Inc.

Original language	English
Journal	American Journal of Medical Genetics. Part A
DOIs	https://doi.org/10.1002/ajmg.a.36793
Publication status	Published - 12 Nov 2014

Keywords

Costello syndrome
Legius syndrome
Noonan syndrome
RASopathy
Ras/MAPK
capillary malformation-AV malformation syndrome
cardio-facio-cutaneous syndrome
neurofibromatosis
signal transduction pathway
therapy

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1002/ajmg.a.36793

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Rauen, K. A., Huson, S. M., Burkitt-Wright, E., Evans, D. G., Farschtschi, S., Ferner, R. E., Gutmann, D. H., Hanemann, C. O., Kerr, B., Legius, E., Parada, L. F., Patton, M., Peltonen, J., Ratner, N., Riccardi, V. M., van der Vaart, T., Vikkula, M., Viskochil, D. H., Zenker, M., & Upadhyaya, M. (2014). Recent developments in neurofibromatoses and RASopathies: Management, diagnosis and current and future therapeutic avenues. American Journal of Medical Genetics. Part A. https://doi.org/10.1002/ajmg.a.36793

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title = "Recent developments in neurofibromatoses and RASopathies: Management, diagnosis and current and future therapeutic avenues.",

abstract = "Neurofibromatosis type 1 (NF1) was the first RASopathy and is now one of many RASopathies that are caused by germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Their common underlying pathogenetic etiology causes significant overlap in phenotypic features which includes craniofacial dysmorphology, cardiac, cutaneous, musculoskeletal, GI and ocular abnormalities, and a predisposition to cancer. The proceedings from the symposium {"}Recent Developments in Neurofibromatoses (NF) and RASopathies: Management, Diagnosis and Current and Future Therapeutic Avenues{"} chronicle this timely and topical clinical translational research symposium. The overarching goal was to bring together clinicians, basic scientists, physician-scientists, advocate leaders, trainees, students and individuals with Ras pathway syndromes to discuss the most state-of-the-art basic science and clinical issues in an effort to spark collaborations directed towards the best practices and therapies for individuals with RASopathies. {\textcopyright} 2014 Wiley Periodicals, Inc.",

keywords = "Costello syndrome, Legius syndrome, Noonan syndrome, RASopathy, Ras/MAPK, capillary malformation-AV malformation syndrome, cardio-facio-cutaneous syndrome, neurofibromatosis, signal transduction pathway, therapy",

author = "Rauen, {Katherine A} and Huson, {Susan M} and Emma Burkitt-Wright and Evans, {D Gareth} and Said Farschtschi and Ferner, {Rosalie E} and Gutmann, {David H} and Hanemann, {C Oliver} and Bronwyn Kerr and Eric Legius and Parada, {Luis F} and Michael Patton and Juha Peltonen and Nancy Ratner and Riccardi, {Vincent M} and {van der Vaart}, Thijs and Miikka Vikkula and Viskochil, {David H} and Martin Zenker and Meena Upadhyaya",

note = "R01 AR062165, NIAMS NIH HHS, United States",

year = "2014",

month = nov,

day = "12",

doi = "10.1002/ajmg.a.36793",

language = "English",

journal = "American Journal of Medical Genetics. Part A",

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Rauen, KA, Huson, SM, Burkitt-Wright, E, Evans, DG, Farschtschi, S, Ferner, RE, Gutmann, DH, Hanemann, CO, Kerr, B, Legius, E, Parada, LF, Patton, M, Peltonen, J, Ratner, N, Riccardi, VM, van der Vaart, T, Vikkula, M, Viskochil, DH, Zenker, M & Upadhyaya, M 2014, 'Recent developments in neurofibromatoses and RASopathies: Management, diagnosis and current and future therapeutic avenues.', American Journal of Medical Genetics. Part A. https://doi.org/10.1002/ajmg.a.36793

TY - JOUR

T1 - Recent developments in neurofibromatoses and RASopathies: Management, diagnosis and current and future therapeutic avenues.

AU - Rauen, Katherine A

AU - Huson, Susan M

AU - Burkitt-Wright, Emma

AU - Evans, D Gareth

AU - Farschtschi, Said

AU - Ferner, Rosalie E

AU - Gutmann, David H

AU - Hanemann, C Oliver

AU - Kerr, Bronwyn

AU - Legius, Eric

AU - Parada, Luis F

AU - Patton, Michael

AU - Peltonen, Juha

AU - Ratner, Nancy

AU - Riccardi, Vincent M

AU - van der Vaart, Thijs

AU - Vikkula, Miikka

AU - Viskochil, David H

AU - Zenker, Martin

AU - Upadhyaya, Meena

N1 - R01 AR062165, NIAMS NIH HHS, United States

PY - 2014/11/12

Y1 - 2014/11/12

N2 - Neurofibromatosis type 1 (NF1) was the first RASopathy and is now one of many RASopathies that are caused by germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Their common underlying pathogenetic etiology causes significant overlap in phenotypic features which includes craniofacial dysmorphology, cardiac, cutaneous, musculoskeletal, GI and ocular abnormalities, and a predisposition to cancer. The proceedings from the symposium "Recent Developments in Neurofibromatoses (NF) and RASopathies: Management, Diagnosis and Current and Future Therapeutic Avenues" chronicle this timely and topical clinical translational research symposium. The overarching goal was to bring together clinicians, basic scientists, physician-scientists, advocate leaders, trainees, students and individuals with Ras pathway syndromes to discuss the most state-of-the-art basic science and clinical issues in an effort to spark collaborations directed towards the best practices and therapies for individuals with RASopathies. © 2014 Wiley Periodicals, Inc.

AB - Neurofibromatosis type 1 (NF1) was the first RASopathy and is now one of many RASopathies that are caused by germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Their common underlying pathogenetic etiology causes significant overlap in phenotypic features which includes craniofacial dysmorphology, cardiac, cutaneous, musculoskeletal, GI and ocular abnormalities, and a predisposition to cancer. The proceedings from the symposium "Recent Developments in Neurofibromatoses (NF) and RASopathies: Management, Diagnosis and Current and Future Therapeutic Avenues" chronicle this timely and topical clinical translational research symposium. The overarching goal was to bring together clinicians, basic scientists, physician-scientists, advocate leaders, trainees, students and individuals with Ras pathway syndromes to discuss the most state-of-the-art basic science and clinical issues in an effort to spark collaborations directed towards the best practices and therapies for individuals with RASopathies. © 2014 Wiley Periodicals, Inc.

KW - Costello syndrome

KW - Legius syndrome

KW - Noonan syndrome

KW - RASopathy

KW - Ras/MAPK

KW - capillary malformation-AV malformation syndrome

KW - cardio-facio-cutaneous syndrome

KW - neurofibromatosis

KW - signal transduction pathway

KW - therapy

U2 - 10.1002/ajmg.a.36793

DO - 10.1002/ajmg.a.36793

M3 - Article

C2 - 25393061

SN - 1552-4833

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

ER -

Recent developments in neurofibromatoses and RASopathies: Management, diagnosis and current and future therapeutic avenues.

Abstract

Keywords

UN SDGs

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