Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics

Developmental Disorders

7th Edition - October 22, 2024
Editors: Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody
Language: English
Hardback ISBN:
9 7 8 - 0 - 1 2 - 8 1 5 2 3 4 - 8
eBook ISBN:
9 7 8 - 0 - 1 2 - 8 1 5 2 3 5 - 5

For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics and genomics into m… Read more

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For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics and genomics into medical practice. With detailed coverage in contributions from more than 250 of the world’s most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for students, health providers, and researchers involved in the care of patients with genetic conditions, and increasingly, all areas of health and disease. This comprehensive yet practical resource emphasizes theory and research fundamentals related to the applications of medical genetics and genomics across the full spectrum of inherited disorders and applications to medicine more broadly.

In this volume, leading physicians and researchers thoroughly examine medical genetics and genomics as applied to developmental disorders, as well as genetic conditions that affect hearing and vision. Here genetic researchers, students, and health professionals will find new and fully revised chapters on human developmental genetics, disorders affecting craniofacial development, chromosomal abnormalities, including aneuploidies and structural abnormalities, hereditary hearing impairment, and various genetic conditions of the eye.

With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics, Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers.

Title of Book
Cover image
Title page
Table of Contents
Copyright
List of Contributors
Preface To The Seventh Edition Of Emery And Rimoin'S Principles And Practice Of Medical Genetics And Genomics
Preface to Developmental Disorders
CHAPTER 1. Human Developmental Genetics
Abstract
1.1 Introduction and Overview
1.2 Timing of Normal Human Development
1.3 The Concept of Developmental Fields and Field Defects
1.4 Cellular Signaling in Development: The Concepts of Induction and Competence
1.5 A Limited Repertoire of Developmental Genes and Pathways
1.6 Developmental Gene Pathways and Families
1.7 Steps and Concepts in Embryonic Development
1.8 Organogenesis
1.9 Conclusion
References
Chapter 2. Clefting, Dental, and Craniofacial Syndromes
Abstract
2.1 Introduction
2.2 Development
2.3 Epidemiology of Clefts
2.4 Genetics
2.5 Clinical Exam and Physical Findings
2.6 Conclusion
References
Chapter 3. Craniosynostosis
Abstract
3.1 Introduction
3.2 Syndromic Craniosynostosis
3.3 Nonsyndromic Craniosynostosis
Acknowledgments
References
Chapter 4. Autosomal Trisomies
Abstract
4.1 Introduction
4.2 Genetic Counseling In The Trisomies
4.3 Down Syndrome (Trisomy 21)
4.4 Trisomy 18
4.5 Trisomy 13
References
Chapter 5. Sex-Chromosome Abnormalities
Abstract
5.1 Introduction
5.2 The Epidemiology of Sex-Chromosome Abnormalities
5.3 Turner Syndrome
5.4 Klinefelter Syndrome
5.5 47,XXX Syndrome
5.6 X Chromosome Mosaicism
5.7 Sex Chromosome Tetrasomy and Pentasomy (Polysomy)
5.8 47,XYY Karyotype
5.9 Structural Abnormalities of the Y Chromosome
5.10 Prenatal Diagnosis of Sex-Chromosome Abnormalities
References
Chapter 6. Deletions and Other Structural Abnormalities of the Autosomes
Abstract
6.1 Introduction
6.2 Translocations
6.3 Uniparental Disomy
6.4 Deletion
6.5 Duplication
Cross-references
References
Chapter 7. Hereditary Hearing Impairment
Abstract
7.1 Introduction
7.2 Anatomy And Physiology
7.3 Prevalence And Classification Of Hearing Loss
7.4 Acquired Hearing Impairment
7.5 Teratogenic Hearing Impairment
7.6 Nonsyndromic Hereditary Hearing Impairment
7.7 Syndromic Hereditary Hearing Impairment
7.8 Inborn Metabolic Errors
7.9 Diagnosis And Differential Diagnosis
Acknowledgments
References
Further reading
Chapter 8. Color Vision Defects
Abstract
8.1 Introduction
8.2 Photoreceptors
8.3 Photopigments of Human Color Vision and the Genes That Encode Them
8.4 Red–Green Color Vision and the X-Chromosome Opsin Gene Locus
8.5 Achromatopsias
8.6 Gene Therapy for Color Vision Defects
Acknowledgments
References
CHAPTER 9. Optic Atrophy
Abstract
9.1 Introduction
9.2 “Primary” Optic Atrophies
9.3 Complex Optic Atrophies
References
Chapter 10. Glaucoma
Abstract
10.1 Introduction
10.2 Clinical Features Of Heritable Forms Of Glaucoma
10.3 Genes Causing Childhood And Early-Onset Glaucoma
10.4 Genome-Wide Association Studies For Adult-Onset Forms Of Glaucoma With Complex Inheritance
10.5 Conclusion
References
Chapter 11. Genetic disorders of the cornea
Abstract
Glossary
11.1 Introduction
11.2 Dystrophies
11.3 Defects Associated With Systemic Disease
11.4 Other Inherited Corneal Abnormalities
11.5 Conclusion
References
CHAPTER 12. Inherited Cataracts and Other Genetic Disorders of the Lens
Abstract
Glossary
12.1 Introduction
12.2 Lens Development And Morphology
12.3 Clinical Features And Classification Of Inherited Cataracts
12.4 Molecular Genetics Of Mendelian Cataracts
12.5 Mechanisms Of Mendelian Congenital Cataract
12.6 Molecular Genetics Of Syndromic Cataracts
12.7 Other Lens Disorders
12.8 Diagnosis And Treatment
References
Chapter 13. Inherited retinal and choroidal dystrophies
Abstract
13.1 Introduction
13.2 Inheritance Patterns And Molecular Genetics
13.3 Pigmentary Retinopathies/Retinitis Pigmentosa
13.4 The Primary Pigmentary Retinopathies
13.5 Leber’s Congenital Amaurosis
13.6 The Primary Cone Degenerations
13.7 Achromatopsia
13.8 Blue Cone Monochromatism
13.9 Fleck Retina Diseases (Fundus Flavimaculatus, Fundus Albipunctatus, Retinitis Punctata Albescens, And Familial Drusen)
13.10 Stargardt’s Disease
13.11 Familial Drusen (Doyne Honeycomb Retinal Dystrophy, Malattia Leventinese)
13.12 Retinitis Punctata Albescens And Fundus Albipunctatus
13.13 Vitelliform Macular Dystrophy (Best Disease)
13.14 Albinism
13.15 Treatment And Management Of Retinal Dystrophies
Resources
Cross References
References
CHAPTER 14. Genetics of Strabismus
Abstract
14.1 Introduction
14.2 Prevalence and Pathophysiology
14.3 Clinical Background
14.4 Isolated Common Strabismus
14.5 Single Gene Defect Disorders
14.6 Complex Strabismus/Syndromic Strabismus
14.7 Strabismus Associated with Other Ocular Disease
14.8 Strabismus Associated with Multisystem Disease
Summary
References
Chapter 15. Anophthalmia, Microphthalmia, and Uveal Coloboma
Abstract
Glossary
15.1 Introduction
15.2 Anophthalmia
15.3 Microphthalmia
15.4 Genes And Syndromes Associated With Anophthalmia, Microphthalmia, And/Or Uveal Coloboma
15.5 A Clinical Approach To The Patient With Amc
15.6 Persistence Of The Fetal Vasculature/Persistent Hyperplastic Primary Vitreous
Relevant Websites
References
Further reading
Index

Reed E. Pyeritz

Dr. Reed Pyeritz is a medical genetics doctor in Philadelphia, Pennsylvania and is affiliated with Hospitals of the University of Pennsylvania-Penn Presbyterian. Dr. Pyeritz focuses his research in two areas – Mendelian disorders of the cardiovascular system (especially those involving defects of connective tissue) and ethical, legal and social implications of human genetics. He is continuing his studies, begun over 20 years ago, of Marfan syndrome and related conditions – diseases in which the aorta and occasionally major arterial branches gradually enlarge and dissect, leading to early demise if untreated. Current efforts include a multicenter trial of angiotensin receptor blockade in Marfan syndrome, the identification of additional genes that predispose to arteriopathy, and improving methods for diagnosing and treating arterio-venous malformations, especially in hereditary hemorrhagic telangiectasia (HHT). Dr. Pyeritz directs Penn CIGHT (Center for the Integration of Genetic Healthcare Technologies). Supported by the ELSI Branch of the National Human Genome Research Institute, Penn CIGHT conducts research in the broad area of ‘uncertainty’ as related to the introduction of evolving approaches to assaying a patient’s genotype.

Affiliations and expertise

William Smilow Professor of Medicine and Professor of Genetics, Senior Fellow, Leonard Davis Institute of Health Economics, Perelman School of Medicine, University of Pennsylvania, Smilow Center for Translational Research, Philadelphia, PA, USA

Bruce R. Korf

Bruce R. Korf is the director of the Heflin Center for Human Genetics and chairman of the Department of Genetics at the University of Alabama at Birmingham. In April 2009, he began a two-year term as president of the American College of Medical Genetics (ACMG). Korf received his M.D. from Cornell University Medical College and his Ph.D. in genetics and cell biology from Rockefeller University. He completed a residency in pediatrics, pediatric neurology, and genetics at Children's Hospital, Boston. Prior to his appointment at the University of Alabama, he served as clinical director in the Division of Genetics at Children's Hospital from 1986 to 1999, and as the medical director of the Harvard-Partners Center for Genetics and Genomics from 1999 to 2002. He was associate professor of neurology at Harvard Medical School and directed postdoctoral training in medical and laboratory genetics at hospitals affiliated with Harvard. Korf's principal area of research is neurofibromatosis. Korf is the author of Human Genetics: A Problem-Based Approach, an introductory graduate textbook used by medical students and genetic counselors. He is co-author, with Dorian Pritchard, of Medical Genetics at a Glance, and an editor of Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics.

Affiliations and expertise

Chief Genomics Officer, UAB Medicine, Wayne H. and Sara Crews Finley Endowed Chair in Medical Genetics, University of Alabama at Birmingham, Birmingham, AL, USA

Wayne W. Grody

Wayne W. Grody, M.D., Ph.D. is a Professor in the Departments of Pathology & Laboratory Medicine, Pediatrics, and Human Genetics at the UCLA School of Medicine. He is the director of the Diagnostic Molecular Pathology Laboratory within the UCLA Medical Center, and is also an attending physician in the Department of Pediatrics, specializing in the care of patients with or at risk for genetic disorders. He has been one of the primary developers of quality assurance and ethical guidelines for DNA-based genetic testing for a number of governmental and professional agencies including the FDA, AMA, CAP, ACMG, ASHG, NCCLS, CDC, NIH-DOE Human Genome Project (ELSI program), and PSRGN. He served as a member of the NIH-DOE Task Force on Genetic Testing, and was the working group chair for development of national guidelines for cystic fibrosis and factor V-Leiden mutation screening. Most recently, he was appointed chair of an Advisory Committee on Genomic Medicine for the entire VA healthcare system. He did his undergraduate work at Johns Hopkins University, received his M.D. and Ph.D. at Baylor College of Medicine, and completed residency and fellowship training at UCLA. He is double board-certified by the American Board of Pathology (Anatomic and Clinical Pathology, Molecular Genetic Pathology) and the American Board of Medical Genetics (Clinical Genetics, Molecular Genetics, and Biochemical Genetics).

Affiliations and expertise

Professor, Divisions of Medical Genetics and Molecular Diagnostics, Departments of Path. and Lab. Medicine, Pediatrics, and Human Genetics, UCLA School of Medicine, UCLA Institute for Society and Genetics, Director, Molecular Diagnostic Laboratories and Clinical Genomics Center, UCLA Medical Center, Los Angeles, CA, USA

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Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics

Developmental Disorders

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Reed E. Pyeritz

Bruce R. Korf

Wayne W. Grody