Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics
Ophthalmologic, Hearing, Craniofacial, Dermatologic, Connective Tissue, and Skeletal Disorders
- 7th Edition - November 14, 2024
- Imprint: Academic Press
- Editors: Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody
- Language: English
- Hardback ISBN:9 7 8 - 0 - 1 2 - 8 1 2 5 3 1 - 1
- eBook ISBN:9 7 8 - 0 - 1 2 - 8 1 2 6 7 9 - 0
**Selected for 2025 Doody’s Core Titles® in Clinical Genetics**For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ul… 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, and genetic counseling. Volumes 3–11 cover diagnosis, management, and treatment of both rare and common disorders in all organ systems. Students, medical providers, and researchers all benefit from the latest information about the role of the genome in health and disease. This comprehensive yet practical resource emphasizes theory and research fundamentals across the full spectrum of applications to medicine.
In this volume, leading physicians and researchers thoroughly examine medical genetics and genomics as applied to endocrine, skin, connective tissue and skeletal disorders, with emphasis on understanding the genetic mechanisms underlying these conditions, diagnostic approaches, and treatment methods that make use of current genomic technologies and translational studies.
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 genomics and practical application and serves as an invaluable clinical tool for the health professionals and researchers.
- Thoroughly introduces genetic researchers, students, and healthcare professionals to the genetic and genomic bases of endocrinologic, dermatologic, connective tissue, and skeletal disorders
- Includes color images supporting identification, concept illustration, and method processing
- Features contributions by leading international researchers and specialist medical practitioners
Students, physicians, and researchers in the field of medical genetics and personalized medicine, medical practitioners and researchers specializing in ophthalmology, audiology, dentistry, dermatology and researchers specializing in craniofacial disorders, connective tissue disorders, skeletal disorders, and orthopedics, as well as genetic diagnostics and therapy in these and related disciplines genetic counselors, genetic researchers in industry and pharma
- Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics
- Cover image
- Title page
- Table of Contents
- Copyright
- Contributors
- Preface to the seventh edition of emery and Rimoin's principles and practice of medical genetics and genomics
- Preface to Ophthalmologic, Hearing, Craniofacial, Dermatologic, Connective Tissue, and Skeletal Disorders
- Part I: Connective Tissue Disorders
- 1 Marfan Syndrome
- Abstract
- Keywords
- Introduction
- Structure and Composition of Extracellular Microfibrils
- Fibrillins
- Microfibril-Associated Glycoproteins
- Functions of Microfibrils
- Marfan Syndrome (OMIM ∗ 154700): The Prototype of Disorders of Microfibrilogenesis and the Fibrillins
- Historic Perspective
- Prevalence
- Marfan Diagnosis
- Marfan Prognosis
- Phenotype of MFS
- Pathology
- Genetics
- Etiology
- Molecular Pathology
- Pathogenesis
- Diagnosis
- Management
- Counseling
- Life Expectancy
- Disorders Related to MFS
- MASS Phenotype (OMIM ∗ 157700)
- Ectopia Lentis (OMIM ∗ 129600)
- References
- 2 Heritable Diseases Affecting the Elastic Fibers: Cutis Laxa, Pseudoxanthoma Elasticum, and Related Disorders
- Abstract
- Keywords
- Acknowledgments
- Introduction
- Biology of Elastin
- Protein Structure
- The Elastin Gene (ELN)
- Degradation and Remodeling
- Pathology of the Elastic Fibers
- Elastin Deficiency Disorders
- Cutis Laxa and Other Lax Skin Syndromes
- Acquired Cutis Laxa
- Anetoderma
- Wrinkly Skin Syndrome
- Mid-Dermal Elastolysis
- de Barsy Syndrome
- Michelin Tire Baby Syndrome
- Elastin Accumulation Diseases
- Pseudoxanthoma Elasticum
- Elastoderma
- Buschke–Ollendorff Syndrome
- Elastomas
- Disorders of Elastin Fibrillogenesis
- Menkes Syndrome
- Williams Syndrome and Supravalvular Aortic Stenosis
- Costello Syndrome
- References
- 3 Disorders of Bone Density, Volume, and Mineralization
- Abstract
- Keywords
- Introduction
- Disorders of Impaired Bone Resorption
- Osteopetrosis Group of Disorders
- Defects in Early Osteoclast Differentiation
- Defects in Receptor Activation of Nuclear Factor κB and Related Proteins
- Defects in Osteoclast Function
- Defects in Acidification
- Human Osteopetrosis Syndromes
- Osteopetrosis With Precocious Manifestations
- Osteopetrosis With Later Onset and Juvenile Types
- Osteopetrosis With Renal Tubular Acidosis (259730)
- Raine Dysplasia (OMIM 259775)
- Pyknodysostosis (OMIM 265800)
- Disorders of Increased Bone Formation
- Dysosteosclerosis (OMIM 224300)
- Osteopoikilosis, Buschke-Ollendorf Syndrome, and Melorheostosis
- Osteopathia Striata (OMIM 300373)
- Osteopathia Striata With Cranial Sclerosis (OMIM 300373)
- Focal Dermal Hypoplasia (OMIM 305600)
- Spondyloepimetaphyseal (SPONASTRIME Dysplasia [OMIM 271510])
- Craniotubular Remodeling Disorders
- Diaphyseal Dysplasia (Camurati-Englemann Disease Types I and II; OMIM 131300; 606631)
- Camurati-Engelman Disease Type II
- Hyperostosis Generalisata With Striations of the Bones (HGS)
- Craniodiaphyseal Dysplasia
- Endosteal Hyperostosis, Van Buchem Disease, and Sclerosteosis
- Worth Type of Endosteal Hyperostosis (OMIM 144750)
- Van Buchem Type of Hyperostosis (OMIM 239100)
- Sclerosteosis
- Pachydermoperiostosis (PHOAD OMIM 167100; PHOAR1 OMIM 259100; PHOAR2 OMIM 614441)
- Craniometaphyseal Dysplasias
- Craniotubular Remodeling Disorders Resulting From Variants in Filamin A
- Frontometaphyseal Dysplasia
- Otopalatodigital Syndrome Type I
- Otopalatodigital Syndrome Type II
- Osteodysplasty (Melnick-Needles Syndrome)
- Tubular Stenosis (Kenny-Caffey Syndrome) (OMIM 127000 & OMIM 244460)
- Disorders of Increased Bone Turnover
- Paget Disease
- Hyperphosphatasemia With Osteoectasia (OMIM 23900)
- Parathyroid Disorders
- Disorders of Parathyroid Hormone Resistance
- Molecular Pathogenesis of PHP Type IA, PPHP, and PHP Type IB
- Rickets
- X-Linked Hypophosphatemic Rickets (307899)
- Hyperphosphatasia (OMOM 146300; 24510)
- References
- 4 Osteochondrodysplasias
- Abstract
- Keywords
- Introduction
- Classification and Nomenclature
- Clinical Evaluation
- Radiographic Assessment
- Biochemical and Molecular Abnormalities
- Defects in Extracellular Matrix Proteins
- Type I Collagen
- Collagens Types II, IX, and XI
- Type X Collagen
- Cartilage Oligomeric Matrix Protein (COMP)
- Defects in Metabolic Pathways
- SLC26A2 (AKA Diastrophic Dysplasia Sulfate Transporter) (DTDST)
- Arylsulfatase E
- Sterol Biosynthesis
- Defects in Folding and Degradation of Macromolecules
- Other Lysosomal Enzyme Defects
- Defects in Hormones and Signal Transduction Mechanisms
- Fibroblast Growth Factor Receptor 3
- Parathyroid Hormone-Related Peptide Receptor
- Defects in Nuclear Proteins and Transcription Factors
- SOX9
- SHOX
- Defects in Oncogenes and Tumor Suppressor Genes
- Hereditary Multiple Osteochondromas (HMO)
- Trichorhinophalangeal Syndromes
- Defects in RNA and DNA Processing and Metabolism
- Cartilage-Hair Hypoplasia
- Schwchman-Diamond Syndrome
- Defects in Intracellular Structural Proteins
- Filamin-A Related Disorders
- Filamin-B Related Disorders
- Summary
- References
- Part II: Dermatologic Disorders
- 5 Abnormalities of Pigmentation
- Abstract
- Keywords
- Acknowledgment
- Introduction
- The Pigmentary System
- Development of Melanocytes
- Distribution and Survival of Melanocytes
- Differentiation and Function of Melanocytes
- Regulation of Melanosome Structure and Function
- Regulation of Melanin Production
- Interactions and Regulation
- Genetics and Disorders of Human Pigmentation
- Disorders of Melanocyte Development, Differentiation, or Migration—Piebaldism and Waardenburg Syndrome
- Disorders of Melanocyte Function—Albinism
- Disorders of Melanosome Biogenesis/Transport—Hermansky-Pudlak Syndrome, Chédiak-Higashi Syndrome, and Griscelli Syndrome
- Hermansky-Pudlak Syndrome (HPS)
- Chédiak-Higashi Syndrome
- Griscelli Syndrome
- Rare Conditions With Albinism and Hypopigmentation
- Disorders of Melanocyte Survival—Vitiligo
- Generalized Vitiligo (GV)
- Segmental Vitiligo (SV)
- References
- 6 Ichthyosiform Dermatoses
- Abstract
- Keywords
- Introduction
- Approach to Diagnosis of Ichthyosis
- The Morphology of Normal Skin
- Ichthyosis Vulgaris
- Clinical Features
- Genetics
- Management
- X-Linked Ichthyosis
- Clinical Features
- Genetics
- Management
- Autosomal Recessive Congenital Ichthyosis
- Clinical Features
- Genetics
- Management
- Epidermolytic Ichthyosis
- Clinical Features
- Genetics
- Management
- Superficial Epidermolytic Ichthyosis
- Clinical Features
- Genetics
- Annular Epidermolytic Ichthyosis
- Clinical Features
- Genetics
- Ichthyosis With Confetti
- Clinical Features
- Genetics
- Ichthyosis of the Newborn
- Collodion Baby
- Harlequin Ichthyosis
- Hyperkeratosis of the Palms and Soles
- Pachyonychia Congenita
- Trichothiodystrophy
- Rare Ichthyoses
- Rare Ichthyoses Associated With Metabolic Disease
- Rare Ichthyoses Associated With Neurological Disease
- Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome
- Clinical Features
- Genetics
- Ichthyosis Prematurity Syndrome
- Clinical Features
- Genetics
- Multiple Sulfatase Deficiency
- Clinical Features
- Genetics
- Rare Ichthyoses Associated With Bone or Skeletal Disease
- Rare Ichthyoses Associated With Hair Disease
- Rare Ichthyoses Associated With Eye and Ear Disease
- Pathophysiological Mechanisms Underlying Ichthyoses
- Prenatal Diagnosis
- References
- 7 Epidermolysis Bullosa
- Abstract
- Keywords
- Introduction
- Molecular Basis of Dermo-Epidermal Adhesion
- Cell-Matrix Interactions
- Classification of Epidermolysis Bullosa
- Clinical Features of Different EB Subtypes
- EB Simplex
- Rare EBS Subtypes
- Recessive EBS Caused by BPAG1 Variants
- Recessive EBS Caused by EXPH5 Variants
- Autosomal Recessive EBS Caused by CD151 (TSPAN24) Variants
- Dominant EBS Caused by KLHL24 Variants (Generalized, With Scarring and Hair Loss)
- EBS Caused by Variants in the Intracellular Domain of Transmembrane Proteins
- Junctional EB
- JEB With Interstitial Lung Disease and Nephrotic Syndrome
- Rare Subtype: LOC Syndrome
- Dystrophic EB
- Kindler EB
- Extracutaneous Symptoms and Complications in EB
- Differential Diagnosis
- Diagnostic Tests
- Molecular Genetics of Epidermolysis Bullosa
- Next Generation Sequencing, Candidate Genes, and Variant Analysis
- Implications of Molecular Genetics for the Management of EB
- Treatment and Therapeutics
- Prevention and Wound Care
- Development of Molecular Therapies for EB
- Gene Therapy
- Natural Gene Therapy/Revertant Mosaicism
- Animal Models
- The Role of Patient Advocacy Organizations
- List of Websites Relevant to EB
- References
- 8 Ectodermal Dysplasias
- Abstract
- Keywords:
- Introduction
- Hypohidrotic Ectodermal Dysplasia
- Clinical Features
- Genetics
- Diagnosis and Differential Diagnosis
- Management and Counseling
- Genetics
- TP63-Related Ectodermal Dysplasia Syndromes
- Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome (MIM 604292)
- Clinical Features
- Genetics
- Management and Counseling
- Ankyloblepharon, Ectodermal Defects, Cleft Lip/Palate (MIM 106260)
- Clinical Features
- Genetics, Diagnosis, and Differential Diagnosis
- Management and Counseling
- Rapp-Hodgkin Syndrome (MIM 129400)
- Clinical Features
- Genetics
- Management and Counseling
- ADULT (Acro-Dermato-Ungual-Lacrimal-Tooth) Syndrome (MIM 103285)
- Limb-Mammary Syndrome (MIM 603543)
- Split Hand/Split Foot Malformation (SHFM4) (MIM 605289)
- Differential Diagnosis
- Hidrotic Ectodermal Dysplasia (Clouston Syndrome) (MIM 129500)
- Clinical Features
- Genetics, Diagnosis, and Differential Diagnosis
- Management and Counseling
- Tooth and Nail Syndrome (Witkop Syndrome) (MIM 189500)
- Clinical Features
- Genetics, Diagnosis, and Differential Diagnosis
- Management and Counseling
- IKBKG-Related Disorders
- Incontinentia Pigmenti, Familial Male-Lethal Type (IP2) (MIM 308310)
- Ectodermal Dysplasia and Immune Deficiency 1 (EDAID1) (MIM 300291)
- Autosomal Dominant Ectodermal Dysplasia and Immune Deficiency 2 (EDAID2) (MIM 612132)
- Tricho-Dento-Osseous Syndrome (MIM 190320)
- Goltz Syndrome (Focal Dermal Hypoplasia) (MIM 305600)
- KID (Keratitis-Ichthyosis-Deafness) Syndrome (MIM 242150)
- Oculo-Dento-Digital Dysplasia (MIM 164200 and 257850)
- Ectodermal Dysplasia-Ectrodactyly-Macular Degeneration (EEM) Syndrome (MIM 225280)
- Cross References
- References
- Relevant Web Pages
- 9 The Genetics of Skin Cancer
- Abstract
- Keywords
- Introduction
- Basal Cell Carcinoma
- Clinical Features and Pathology
- Genetics of BCC
- Nevoid Basal Cell Carcinoma Syndrome (Gorlin-Goltz Syndrome)
- Clinical Features
- Molecular Genetics of Familial and Sporadic Basal Cell Carcinomas
- Diagnosis of Nevoid Basal Cell Carcinoma Syndrome
- Management
- Treatment
- Bazex-Dupre-Christol Syndrome (OMIM 301845)
- Nonsyndromal Familial Basal Cell Carcinomas
- Squamous Cell Carcinoma
- Epidemiology
- Clinical Features and Pathology of Squamous Cell Carcinoma
- Management
- Genetics of SCC
- Xeroderma Pigmentosum
- Clinical Features
- Management
- Multiple Self-healing Epitheliomas of Ferguson Smith (OMIM 132800)
- Epidermodysplasia Verruciformis (OMIM 226400, 618231, 618267, 618307, 618309)
- Clinical Features
- Recessive Dystrophic Epidermolysis Bullosa (of the Hallopeau-Siemens Type) (OMIM 226600)
- Porokeratoses (OMIM 175800, 178500, 115900, 607728, 612293, 612353, 614714, 616063, 616631)
- Clinical and Pathological Features
- Muir-Torre Syndrome (OMIM 158320)
- Melanoma
- The Genetics of Susceptibility to Melanoma
- Melanoma in Family Cancer Syndromes
- High Penetrance Genes and Familial Melanoma
- Management
- References
- 10 Genetics of Psoriasis
- Abstract
- Keywords
- Introduction
- Clinical Features and Subtypes
- Prevalence, Age at Onset, and Sex Ratio
- Genetic Epidemiology
- Environmental Factors
- Comorbidities
- Histopathology and Lesional Evolution
- Immunopathogenesis
- Psoriasis Susceptibility Loci and Their Roles in Disease Pathogenesis
- Antigen Presentation
- The IL-12/IFN-γ and IL-23/IL-17 axes
- TNF-α and NF-κB Signaling
- Dendritic Cell/Macrophage Function
- The Epidermal Barrier and Antimicrobial Defenses
- Other Genetic Risk Factors
- Genetic Loci Associated With Clinical Subtypes and Manifestations of Psoriasis
- Management
- Conclusion
- References
- 11 Cutaneous Hamartoses-Renal Cancer Syndromes: Birt-Hogg-Dubé (BHD) Syndrome and Hereditary Leiomyomatosis and Renal Cancer (HLRCC)
- Abstract
- Keywords
- Hereditary Leiomyomatosis and Renal Cancer
- Genetics of HLRCC
- Fumarate Hydratase Biology
- HLRCC Disease Manifestations
- Disease Risk in Large Series of Families and Individuals With FH PVs
- Cutaneous Leiomyomas
- Renal Cancer
- Uterine Leiomyomas
- Pheochromocytoma
- Medical and Surgical Management of HLRCC
- Disease Surveillance (Table 2)
- Treatment
- Birt-Hogg-Dubé Syndrome
- Genetics of BHD
- FLCN Biology
- Disease Manifestations of BHD
- Fibrofolliculomas
- Pulmonary Disease
- Renal Cancer in BHD
- Other Manifestations
- Medical and Surgical Management of BHD
- References
- 12 Inherited Disorders of the Hair
- Abstract
- Keywords
- Introduction
- HF Anatomy
- HF Morphogenesis and Cycling
- Hair Keratins and Their Regulation
- Desmosomes of the HF
- Genetics of Hypotrichosis and Other Structural Hair Abnormalities
- Disorders Involving the Wnt/β-Catenin Pathway
- Human Hair Disorders Involving the Ectodysplasin Receptor (EDAR) Signaling Pathway
- Human Hair Disorders Involving the Keratins and Their Regulators
- Human Hair Disorders Involving the Desmosomes
- Hair Disorders Related to the Hair Cycle Regulator, Hairless (HR)
- Hair Disorders With Mutations in the P-Cadherin (CDH3) Gene
- Disorders Associated With Trichorrhexis Nodosa
- Disorders of Pigmentary Hair
- Griscelli Syndrome
- Chediak-Higashi Syndrome
- Cross Syndrome
- Albinism
- Hermansky-Pudlak Syndrome
- Waardenburg Syndrome
- Piebaldism
- Phenylketonuria
- Hair Abnormalities in Association With Nutritional Deficiencies
- Acrodermatitis Enteropathica
- Biotinidase Deficiency
- Other Disorders Associated With Hair Phenotypes
- Trichorhinophalangeal Syndrome
- Keratosis Follicularis Spinulosa Decalvans
- Hidrotic Ectodermal Dysplasia
- Bazex-Dupre-Christol Syndrome
- Hypotrichosis-Lymphedema-Telangiectasia Syndrome
- Chondrodysplasia Punctata Type 2
- Hypertrichosis
- Disorders With Generalized Hypertrichosis
- Cataract, Hypertrichosis, and Mental Retardation (CAHMR) Syndrome
- Amaurosis Congenita, Cone-Rod Type With Congenital Hypertrichosis
- Disorders With Patchy Hypertrichosis
- Cervical Hypertrichosis With Underlying Kyphoscoliosis
- Genetics of Polygenic Disorders
- Alopecia Areata
- Androgenetic Alopecia
- Cicatricial Alopecia
- References
- Part III: Endocrinologic Disorders
- 13 Genetic Disorders of the Adrenal Gland
- Abstract
- Keywords
- Normal and Abnormal Adrenal Function
- Endocrine Functions of the Adrenal Cortex
- Regulation of Steroid Synthesis
- The Adrenal Cortex as Two Glands
- Adrenal Steroids in Development
- Congenital Adrenal Hyperplasia
- Treatment of CAH
- Congenital Adrenal Hyperplasia: Prenatal Diagnosis and Treatment
- Congenital Adrenocortical Disease Presenting as Cushing Syndrome
- ACTH-Independent Macronodular Adrenal Hyperplasia (AIMAH; OMIM 219080)
- Primary Pigmented Nodular Adrenocortical Disease (PPNAD3; OMIM 614190)
- Familial Hyperaldosteronism
- Congenital Adrenal Hypoplasia (AHC; OMIM 300200)
- References
- Further Reading
- 14 Genetic Disorders of the Pituitary Gland
- Abstract
- Keywords
- Introduction
- Normal Pituitary Development and Function
- The Role of Transcription Factors in Pituitary Development
- Disorders of Pituitary Function
- The Growth Hormone Gene
- Developmental Anomalies and Syndromes
- Congenital Absence or Hypoplasia of the Pituitary
- Anencephaly
- Holoprosencephaly
- Transphenoidal Encephalocele
- Empty Sella Syndrome
- Septo-Optic Dysplasia
- Cleft Lip and Palate
- Solitary Maxillary Central Incisor
- Pallister-Hall Syndrome
- CHARGE Syndrome
- Chromosomal Syndromes
- Borjeson-Forssman-Lehmann Syndrome
- Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
- Fanconi Anemia
- Gonadal Dysgenesis
- Hemochromatosis
- Neurofibromatosis Type 1
- Reiger Syndrome
- Moebius Syndrome
- Syndromes Reported With Growth Hormone Deficiency
- Familial Central Precocious Puberty
- Combined Pituitary Hormone Deficiency (CPHD)
- CPHD due to Pathogenic Variants in POU1F1
- CPHD Variants due to PROP1 Pathogenic Variants
- CPHD due to LIM-Homeobox Gene Variants
- CPHD due to LHX4 Pathogenic Variants
- CPHD due to HESX1 Pathogenic Variants
- CPHD due to OTX2 Variants
- CPHD due to RNPC3 Variants
- CPHD due to SOX3 Variants
- Disorders of the Growth Hormone Pathway
- Genetic Disorders of Growth Hormone Insufficiency (Table 3)
- GHRHR Gene Defects
- Familial IGHD
- IGHD IA
- Deletions
- Deletion/Frameshift Variants
- Nonsense Variant
- IGHD IB
- Splicing Variants
- Deletion/Frameshift Variants
- IGHD II
- Theoretical Basis of IGHD II
- IGHD III
- Kowarski Syndrome (Bioinactive Growth Hormone)
- Growth Hormone Secretagogus Receptor (GHSR) Defects
- Growth Hormone Resistance
- Laron Dwarfism Type 1
- Laron Dwarfism II (Post-Receptor Defects)
- African Pygmies
- Disorders of Growth Hormone Excess
- Gigantism
- Acromegaly
- Disorders of the Gonadotropin Pathway
- Hypogonadotropic Hypogonadism
- Central Precocious Puberty
- Disorders of Pituitary Hypersecretion and/or Neoplasia
- Familial Isolated Pituitary Adenoma (FIPA)
- Multiple Endocrine Neoplasia Type 1
- Multiple Endocrine Neoplasia Type 4 (MEN4)
- Carney Complex
- Familial Hyperprolactinemia (OMIM 615555)
- Posterior Pituitary: Genetic Disorders of AVP Deficiency
- Neurohypophyseal Diabetes Insipidus (NDI)
- Other Forms of Familial Neurohypophyseal DI
- Wolfram Syndrome
- References
- 15 Thyroid Disorders
- Abstract
- Keywords
- Introduction
- Congenital Hypothyroidism
- Hypothalamic-Pituitary or Central Congenital Hypothyroidism
- Thyroidal Congenital Hypothyroidism
- Disorders of Thyroid Hormone Transport, Metabolism, and Action
- Disorders of Thyroid Hormone Transport Proteins
- Defects of Thyroid Hormone Membrane Transporters (OMIM #300523)
- Defects in Iodothyronine Deiodinase Cofactors (OMIM #609698)
- Thyroid Hormone Resistance (OMIM #188570, #145650)
- Genetic Hyperthyroidism
- Activating TSHR Mutations (OMIM #609152)
- Activating G-Protein Mutations (OMIM #174800)
- Thyroid Disease Associated With Chromosomal Abnormalities and Contiguous Gene Deletion Syndromes
- Genetic Basis of Autoimmune Thyroid Syndrome
- Familial Graves’ Disease and Hashimoto Thyroiditis (OMIM #275000, #140300)
- Autoimmune Polyglandular Syndrome (OMIM #240300, %269200, #304790)
- Familial Thyroid Cancer
- Hereditary Medullary Thyroid Carcinoma (OMIM #171400, #155240, #162300)
- Familial Nonmedullary Thyroid Cancer
- References
- 16 Diabetes Mellitus
- Abstract
- Keywords
- Introduction
- Difficulties in Genetic Studies of Diabetes
- Diabetes in Families and Twins
- Familial Aggregation of Diabetes
- Early Twin Studies
- Genetic Heterogeneity in Diabetes
- Rare Syndrome Associations
- Heterogeneity Between Type 1 and Type 2 Diabetes
- Type 1 (Insulin-Dependent) Diabetes Mellitus
- Natural History and Pathophysiology of T1D
- Penetrance of T1D
- The HLA Region and T1D
- Non-HLA Region Genes and T1D
- Identifying T1D Genes by Genome-Wide Linkage Scans
- The Role of Environmental Factors in T1D
- Treatment of T1D
- Genetic Counseling in T1D
- Type 2 Diabetes Mellitus
- Introduction
- Evidence of a Genetic Contribution to T2D
- Genetics of Intermediate Phenotypes for T2D
- Heterogeneity in T2D
- Genetic Approaches in T2D
- Maturity Onset Diabetes of the Young (MODY)
- Candidate Genes and T2D
- Identifying T2D Genes by Genome-Wide Linkage Scans
- T2D Genes Identified by Genome-Wide Association Studies
- Mitochondrial Mutations and Maternal Transmission
- Treatment of T2D
- Genetic Counseling for T2D
- Final Considerations and Speculations
- Evolutionary Aspects of Diabetes Mellitus
- Summary of Counseling for T1D and T2D
- Relevant Web Pages
- References
- Part IV: Skeletal Disorders
- 17 Common Skeletal Deformities
- Abstract
- Keywords
- Introduction
- Idiopathic Scoliosis
- Spondylolisthesis
- Congenital Dislocation of the HIP
- Clubfoot
- Talipes Equinovarus
- Talipes Calcaneovalgus
- Metatarsus Varus
- Juvenile Osteochondroses
- References
- 18 Hereditary Noninflammatory Arthropathies
- Abstract
- Keywords
- Acknowledgments
- Introduction
- Spondyloepiphyseal Dysplasias
- Familial Osteoarthritis
- Primary Osteoarthropathy of the Hip
- Chondrocalcinosis
- Mseleni Joint Disease
- References
- 19 Abnormalities of Bone Structure
- Abstract
- Keywords
- Introduction
- Dysplasia Epiphysealis Hemimelica
- Hereditary Multiple Exostoses
- Trichorhinophlangeal Syndromes (TRPS)
- Langer-Giedion Syndrome
- Enchondromatosis
- Maffucci Syndrome
- Metachondromatosis
- Fibrous Dysplasia of Bone
- Monostotic Fibrous Dysplasia
- Polyostotic Fibrous Dysplasia
- Cherubism
- References
- 20 Osteogenesis Imperfecta and Other Disorders of Bone Matrix
- Abstract
- Keywords
- Introduction
- Osteogenesis Imperfecta
- Pathogenesis of Osteogenesis Imperfecta Syndromes
- General Management of Osteogenesis Imperfecta Syndromes
- Densitometric Evaluation of Bone
- Medical Treatment of Osteogenesis Imperfecta [22,23]
- Bisphosphonate Therapy for Children With Osteogenesis Imperfecta
- Other Therapies
- Clinical Features of the OI Syndromes [63,64]
- Nondeforming Osteogenesis Imperfecta With Blue Sclerae—OI Type I
- Therapy
- Genetic Counseling and Prenatal Diagnosis
- Common Variable Osteogenesis Imperfecta With Normal Sclerae—OI Type IV
- Progressively Deforming Osteogenesis Imperfecta With Normal Sclerae—OI Type III
- Genes Regulating 3′-Prolyl Hydroxylation
- FKBP10, Coding for the FK506-Binding Protein
- Serpin H1 and Serpin F1
- Osterix (OSX)
- BMP1 and Carboxy-Terminal Procollagen Cleavage
- Several Disorders Must Be Distinguished
- Perinatally Lethal Osteogenesis Imperfecta Syndromes—OI Type II
- Genetic Counseling and Prenatal Diagnosis
- Cole-Carpenter Syndrome
- Osteogenesis Imperfecta With Congenital Joint Contractures (Bruck Syndrome)
- Other Manifestations of Osteogenesis Imperfecta
- Hearing Impairment and Vestibular Function in OI
- Craniocervical Anomalies and Basilar Impression
- Osteoporosis-Pseudoglioma Syndrome
- Geroderma Osteodysplasticum
- Hypophosphatasia
- Perinatal Lethal Hypophosphatasia
- Perinatal Benign Hypophosphatasia
- Infantile Hypophosphatasia
- Childhood Hypophosphatasia
- Ondontohypophosphatasia
- Adult Hypophosphatasia
- Genetic Counseling and Prenatal Diagnosis
- Other Bone Fragility Disorders
- Chronic Recurrent Multifocal Osteomyelitis and SAPHO Syndrome
- Singleton-Merten Syndrome (SMS)
- Neonatal Hyperparathyroidism
- Infantile Cortical Hyperostosis (Caffey Disease)
- Early-Onset Osteoporosis (EOOP)
- References
- Index
- Edition: 7
- Published: November 14, 2024
- No. of pages (Hardback): 694
- No. of pages (eBook): 570
- Imprint: Academic Press
- Language: English
- Hardback ISBN: 9780128125311
- eBook ISBN: 9780128126790
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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, USABK
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, USAWG
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, USARead Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics on ScienceDirect