The RASopathies : Genetic Syndromes of the RAS/MAPK Pathway / edited by Katherine A. Rauen.

Format:

Book

Author/Creator:

Rauen, Katherine A.

Contributor:

Rauen

Language:

English

Subjects (All):

Genetics.

Medical genetics.

Neurosciences.

Neurology.

Pediatrics.

Genetics and Genomics.

Clinical Genetics.

Neuroscience.

Local Subjects:

Genetics and Genomics.

Clinical Genetics.

Neuroscience.

Neurology.

Pediatrics.

Physical Description:

1 online resource (912 pages)

Edition:

1st ed. 2024.

Place of Publication:

Cham : Springer Nature Switzerland : Imprint: Springer, 2024.

Summary:

This book presents comprehensive coverage of the RASopathies, one of the largest known recognizable patterns of malformation syndromes, affecting approximately 1 in 1,000 people. These syndromes include neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, Costello syndrome, cardio-facio-cutaneous syndrome, Legius syndrome, capillary malformation-arteriovenous malformation syndrome, SYNGAP1 syndrome and central conducting lymphatic anomalies. Noted physician and authority Katherine Rauen and an assembly of the top international experts present detailed discussions of both the science and clinical implications of these fascinating disorders. The major topics covered in this book include the syndromes and genes, the RAS pathway, phenotypic features, animal modeling and treatments. The book will appeal to a wide audience, including clinicians and basic scientists alike such as medical geneticists, genetics counsellors, oncologists, neurologists, cardiologists, dermatologists, behavioralists, orthopedists, ophthalmologists, neuroscientists, RAS biologists, and signal transductionists. This book is also intended for advocate leaders, trainees, and families with RASopathies.

Contents:

Preface

What is a RASopathy

Neurofibromatosis Type 1

Legius Syndrome

Noonan Syndrome

Noonan Syndrome with Multiple Lentigines

Costello Syndrome

Cardio-facio-cutaneous Syndrome

Capillary Malformation – Arteriovenous Malformation Syndrome

SYNGAP1 – The Gene and Syndrome

Central Conducting Lymphatic Anomalies

Defining Pathogenic Variants in RASopathies

Molecular Genetics of Noonan Syndrome and other RASopathies

Comprehensive Care for Patients with RASopathies

Precision Medicine in RASopathies: Tailored Disease Management through Enhanced Approaches, Disease Delineation, and Pathway-Specific Therapies

Genetic Counseling and the RASopathies

The Importance of Advocacy in the RASopathies

The RAS Signaling Network and Cancer

The RAS-regulated RAF-MEK1/2-ERK1/2 Protein Kinase Pathway – the path most travelled in RASopathies

The non-canonical RAS/MAPK pathway and the RASopathies

Understanding the Ras in RASopathies

RAS Family Interactions: The SHOC2-MRAS-PP1 complex in Noonan syndrome

RASopathy Genes: Germline Risk and Somatic Cancers

Cancer in Neurofibromatosis type 1

Prenatal Manifestations of the RASopathies

Cardiovascular Disease in the RASopathies

Cognitive Development and Learning in RASopathies

Behavioral Profile in RASopathies

Autism and Social Behavior in RASopathies

Epilepsy in RASopathies

Speech-Language Pathology in the RASopathies

Ophthalmic Manifestations in RASopathies

Dermatological Associations in the RASopathies

Mosaic RASopathies

Craniofacial and Dental Development in the RASopathies

Skeletal Muscle Development in the RASopathies

Orthopedic Issues of the RASopathies

Drosophila models of RASopathies

Neurofibromatosis Type 1 Mouse Models

Neurofibromatosis type I: Preclinical Modeling

Modeling the non-NF1 RASopathies

Clinical Studies and Small Molecule Inhibitors for RASopathy Treatment

Index.

ISBN:

9783031629457

3031629450