BOOK REVIEW

NOONAN SYNDROME AND RELATED DISORDERS—A

MATTER OF DEREGULATED RAS SIGNALING. Volume Editor

M. Zenker. Monographs in Human Genetics, Vol. 17: Karger,

Switzerland, 2009.

Volume 17 of the 2009 Monographs in Human Genetics entitled

‘‘Noonan Syndrome and Related Disorders—A Matter of Deregu-

lated Ras signaling’’ is a timely collection of discourses on disorders

of the Ras–MAPK pathway. The various contributors to this

volume are clearly the leading experts in their respective topics.

The relatively recent explosion of clinical phenotypes associated

with mutations of genes within the Ras–MAPK pathway makes this

volume relevant, although the volume does not fully incorporate in

detail all the disorders of the Ras–MAPK pathway including

capillary malformation–arteriovenous malformation (CV-AVM)

syndrome and NF1. In a way this is beneficial as the primary focus of

the volume is on Noonan syndrome and the syndromes historically

debated to have phenotypic overlap with Noonan syndrome.

Any genetics practitioner or scientist actively involved in investi-

gating these conditions will benefit from reading this volume.

Medical geneticists will clearly manage many patients with disor-

ders of the Ras–MAPK pathway and this volume contains many

chapters focusing on the clinical phenotype written by leading

experts of the respective conditions. Therefore, this volume will be

useful to the clinician in terms of management and anticipatory

guidance.

One unique aspect is the method in which the volume provides a

historical view of syndrome delineation with translation to the

molecular etiologies of these conditions. The first chapter by

Dr. Noonan provides an excellent perspective for the remaining

discourses. Six chapters are specifically devoted to the history,

clinical phenotype, molecular genetics, and genotype–phenotype

correlations of Noonan syndrome. Individual chapters discuss the

clinical phenotypes and molecular causes of both cardiofaciocuta-

neous syndrome and Costello syndrome, and Sarkozy et al. discuss

in one chapter the clinical aspects and molecular pathogenesis of

LEOPARD syndrome. Denayer and Legius eloquently discuss the

phenotypic overlap between neurofibromatosis type 1 and Noonan

syndrome and the expanding group of phenotypically overlapping

disorders due to dysregulated Ras–MAPK signaling. The conclu-

sion of the book is fitting as the final two chapters discuss preclinical

models for these conditions with a discussion on the potential

avenues for clinical trials. This final chapter by Joshi et al. is the most

exciting chapter for me as a clinician, given the prospects of

potential treatments for a group of disorders due to germline

mutations within the same signal transduction pathway. The

outline and procession of the chapters are well thought out,

providing the reader with a cohesive book on Noonan syndrome

and related disorders. However, given that the molecular discover-

ies have been so recent, it is possible that this volume will become

outdated quickly as new discoveries and insights are sure to expand

exponentially.

David Stevenson

Division of Medical Genetics, Department of

Pediatrics, University of Utah School of Medicine,

2C412 SOM, Salt Lake City, UT 84132

E-mail: david.stevenson@hsc.utah.edu

Received 6 April 2009; Accepted 13 April 2009

Published online 16 June 2009 in Wiley InterScience

(www.interscience.wiley.com)

DOI 10.1002/ajmg.a.32920

How to Cite this Article:Stevenson D. 2009. Book review

Am J Med Genet Part A 149A:1604.

� 2009 Wiley-Liss, Inc. 1604