Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis (Oxford Monographs on Medical Genetics) - Hardcover

Hardcover

ISBN 10: 019514502X ISBN 13: 9780195145021

Publisher: Oxford University Press, 2003

Synopsis

Disorders that affect tissue differentiation, organogenesis, and morphogenesis constitute a significant proportion of human hereditary diseases. Until very recently, however, their genetic causes and pathogenesis have been unknown. Now, with the elucidation of the molecular pathways that govern developmental processes and with advances in gene identification, the genetic bases of an increasing number of human disorders of development are being discovered and the links between genotype and phenotype established. This extraordinary volume is the first to present in-depth analyses of the human syndromes of abnormal morphogenesis for which the responsible genes have been identified. Following a series of introductory chapters on the general principles of developmental biology, developmental genetics, and the development of individual tissues or organ systems, more than one hundred clinical genetic disorders are considered. The clinical chapters are organized into sections by defined developmental pathways or gene families, and each section is preceded by a general overview. For each disorder the authors cover the disease-causing genes, the role of these genes in development as elucidated in model organisms, the human mutations that have been identified, and the developmental pathogenesis of the condition. Clinical descriptions, along with discussions of therapy and counseling, are provided. This book will be an invaluable resource for physicians, dentists, and other health professionals and for basic scientists interested in developmental processes and genetic perturbations that affect them. It is authoritative, clearly written, consistently organized, and attractively illustrated in color.

About this title

About the Author

Charles J. Epstein is at UCSF. Robert P. Erickson is at University of Arizona.

From The New England Journal of Medicine

Birth defects, the leading cause of infant mortality in the United States, are responsible for nearly 20 percent of all infant deaths. In the 20th century, there was remarkable progress in cataloguing the chromosomal abnormalities, human teratogens, and single-gene defects that cause birth defects. Yet even today, the causes of two thirds of all birth defects remain unknown. The revolution in the biochemistry of genetics opened a window on the ways in which metabolic errors can lead to diverse clinical syndromes such as the mental retardation caused by phenylketonuria. That breakthrough led to the recognition that, when it is begun days after birth, dietary treatment for phenylketonuria can prevent mental retardation. The discovery marked the beginning of newborn screening, one of the most successful public health programs in history. We are now on the brink on another revolution -- the understanding of the molecular basis of abnormal morphogenesis and the promise of finding ways to treat and prevent birth defects. During the past three decades, advances in molecular genetics have led to remarkable progress in our understanding of the molecular basis of morphogenesis. As with the biochemistry of genetics, specific inborn errors of morphogenesis have provided a window through which we can understand normal morphogenesis at the molecular level. This book, to my knowledge, is the first comprehensive review of abnormal and normal morphogenesis. It provides a glimpse of the complexities of this process and the sets of genes that underlie the delicate orchestration of normal morphogenesis. The organization of this book into sections -- among them, those covering patterns of development, defined pathways, gene families not yet linked to pathways, processes, and dysmorphic genes of unknown function that are involved in disease -- is a helpful framework for readers. The section on patterns of development is a comprehensive review of the molecular basis of development and is organized according to organ systems. The section on pathways sheds light on the integrated nature of development and the ways in which molecular errors in certain pathways can affect multiple organ systems. A good example is the cholesterol pathway and its relationship to the Smith-Lemli-Opitz syndrome and other genetic conditions. The section on gene families for which pathways have not been assigned reflects the emerging aspects of this field. The section on genes of unknown function that are involved in dysmorphic disease also reflects the cutting edge of molecular genetics. In a few years, we will probably understand the function of these genes and how they are linked to recognized pathways. This book is a must for students of human development, dysmorphology, genomics, and teratology, as well as for physicians who treat patients with birth defects and developmental disabilities. For those of us who learned about syndromes before the era of molecular genetics, Inborn Errors of Development provides the rest of the story. For parents who seek answers about the cause or causes of their child's birth defects, those answers are now available. However, much more needs to be learned before the causes of all birth defects are discovered. I foresee future editions of this excellent textbook as the field of molecular genetics further opens the window on our understanding of the causes, treatment, and prevention of birth defects. Jose F. Cordero, M.D., M.P.H.
Copyright © 2005 Massachusetts Medical Society. All rights reserved. The New England Journal of Medicine is a registered trademark of the MMS.

Edition details

• Publisher: Oxford University Press
• Publication date: 2003
• ISBN 10: 019514502X
• ISBN 13: 9780195145021
• Binding: Hardcover
• Language: English
• Edition number: 1
• Number of pages: 1120
• Editor: Epstein M.D. Charles J., Erickson M.D. Robert P., Wynshaw-Boris M.D. Anthony