Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis
http://www.100md.com
《新英格兰医药杂志》
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.
José F. Cordero, M.D., M.P.H.
Centers for Disease Control and Prevention
Atlanta, GA 30333
jcordero@cdc.gov(Charles J. Epstein, Rober)
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.
José F. Cordero, M.D., M.P.H.
Centers for Disease Control and Prevention
Atlanta, GA 30333
jcordero@cdc.gov(Charles J. Epstein, Rober)