Clinical Genetics and Genomics at a Glance

Cover
Title Page
Copyright Page
Dedication
Contents
Contributors
Foreword
Preface
Part 1 Introduction
	Chapter 1 What is clinical genetics and genomic medicine?
		What is clinical genetics?
		How does clinical genetic testing help clinical care?
		Pedigrees
		Variant interpretation and the role of the clinical geneticist
		What is the impact of genetics on insurance and migration?
		What is genomic medicine?
		What does genomic medicine encompass?
	Chapter 2 Inheritance
		Autosomal dominant (AD)
			Variable expression and penetrance
			Anticipation
			Germline or gonadal mosaicism
		Autosomal recessive (AR)
		X-linked recessive (XLR)
			X-Chromosome inactivation
			Germline mosaicism (gonadal mosaicism)
		X-linked dominant (XLD)
		Y-chromosome inheritance
		Mitochondrial
		Imprinting and uniparental disomy
	Chapter 3 Cytogenetics and molecular genetic techniques
		Cytogenetics
		Molecular genetics
		DNA sequencing
	Chapter 4 How to read a genetic test report
		Introduction
		Explanation of report
			Report summary
			Gene
			Variant
		How likely is it that a gene change is linked with a genetic condition?
		Genetic terminology
		Further reading
	Chapter 5 Genetic and genomic counselling
		Further reading
Part 2 Cardiology
	Chapter 6 Structural and congenital heart disease
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 7 Cardiomyopathies
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms
		Clinical features and diagnosis
		Management
		The future
	Chapter 8 Ischaemic heart disease
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 9 Arrhythmias and sudden cardiac death
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms
		Clinical features and diagnosis
		Management
		The future
Part 3 Dermatology
	Chapter 10 Tuberous sclerosis complex
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 11 Gorlin syndrome
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 12 Darier’s disease
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 13 Lamellar ichthyosis
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 14 Mal de Meleda
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 15 Cutaneous porphyria
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 16 Cowden syndrome and Cowden-like syndrome
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 17 Epidermolysis bullosa
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 18 Muir-Torre syndrome
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 19 X-linked ichthyosis
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 20 Birt-Hogg-Dubé
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
Part 4 Endocrinology
	Chapter 21 Disorders of sexual development and differentiation
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Management
		The future
	Chapter 22 Congenital adrenal hyperplasia
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 23 Androgen insensitivity syndrome
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 24 Klinefelter syndrome
		Background
		Aetiology
		Genetics
		Clinical features
		Diagnosis
		Management
		The future
	Chapter 25 Turner syndrome
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms
		Clinical features
		Diagnosis
		Management
		The future
	Chapter 26 Diabetes mellitus
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms
		Clinical features
		Diagnosis
		Management
		The future
	Chapter 27 Diabetes insipidus
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms
		Clinical features
		Diagnosis
		Management
		The future
	Chapter 28 Fabry–Anderson disease
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
Part 5 Metabolic
	Chapter 29 Introduction to the genetics of metabolic disorders
		Introduction
		Key principles in investigating IEMs
		Low glucose and ketones
		Ammonia
		Lactic acidosis
		Screening IEMs
	Chapter 30 Overview of disorders of amino acid metabolism
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms
		Clinical features
		Diagnosis
		Management
		The future
	Chapter 31 Overview of disorders of carbohydrate metabolism
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms
		Clinical features
		Diagnosis
		Management
		The future
	Chapter 32 Overview of disorders of lipid metabolism
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms
		Clinical features
		Diagnosis
		Management
		The future
	Chapter 33 Overview of peroxisomal disorders
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms
		Clinical features
		Diagnosis
		Management
		The future
	Chapter 34 Overview of disorders of purine and pyrimidine metabolism
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms
		Clinical features
		Diagnosis
		Management
		The future
Part 6 Gastroenterology
	Chapter 35 Inflammatory bowel disease
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 36 Wilson disease
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 37 Hereditary haemochromatosis
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 38 Coeliac disease
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 39 Pancreatic cancer
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
Part 7 Haematology
	Chapter 40 Malignant haematology
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 41 Non-malignant haematology
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
Part 8 Immunology
	Chapter 42 Severe combined immunodeficiency
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 43 Common variable immunodeficiency
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
		Reference
	Chapter 44 Congenital abnormalities affecting development of the thymus
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 45 DNA repair defects
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 46 X-linked and autosomal recessive agammaglobulinaemia
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 47 Wiskott-Aldrich syndrome
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 48 Hyper-immunoglobulin M syndromes
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 49 Hyper-immunoglobulin E syndrome
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 50 Chronic mucocutaneous candidiasis
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 51 Genetic disorders associated with immune dysregulation and/or autoimmunity
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 52 Genetic disorders associated with familial haemophagocytic lymphohistiocytosis
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 53 Mendelian susceptibility to mycobacterial disease
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 54 Chronic granulomatous disease
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 55 Defects in leukocyte migration
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 56 Defects of toll-like receptors and their signalling pathways
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 57 Autoinflammatory diseases and periodic fever syndromes
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 58 Complement deficiencies
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
Part 9 Neurology
	Chapter 59 Spinal muscular atrophy
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 60 Motor neurone disease/Amyotrophic lateral sclerosis
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms
		Clinical features
		Diagnosis
		Management
		The future
	Chapter 61 Fragile X syndrome
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
			Pre-mutation carriers
			Intermediate alleles
		Diagnosis
		Management
		The future
	Chapter 62 Huntington’s disease
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 63 Dementia
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms, clinical features, and diagnosis
		Management
		The future
	Chapter 64 Parkinson’s disease
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms
		Clinical features and diagnosis
		Management
		The future
	Chapter 65 Myotonic dystrophy
		Background
		Epidemiology
		Genetics and pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
Part 10 Paediatrics and Obstetrics
	Chapter 66 Foetal anomaly screening
		First trimester screening
		Second trimester quadruple test
		Antenatal ultrasound scan
	Chapter 67 Prenatal diagnostic testing and preimplantation genetic diagnosis
		Prenatal diagnostic testing
			Ethics
		Preimplantation genetic diagnosis
	Chapter 68 Edwards’ syndrome
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 69 Patau syndrome (trisomy 13)
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 70 Williams syndrome
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 71 DiGeorge syndrome
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
Part 11 Oncology
	Chapter 72 Introduction to cancer
		What is cancer?
		Risk factors
		Cancer rates and screening
		Family history
		Genetic testing
		Management
		Further reading
	Chapter 73 Neurofibromatosis
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 74 Urological cancers
		Background
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 75 Peutz-Jeghers syndrome
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 76 Von Hippel-Lindau syndrome
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 77 Inherited bowel cancers
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms
		Diagnosis
		Management
		The future
	Chapter 78 Inherited upper gastrointestinal cancers
		Oesophageal cancer
		Gastric cancer
		Liver cancers
		Pancreatic cancer
	Chapter 79 Inherited breast cancer
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Clinical features
		Diagnosis
		Management
		The future
	Chapter 80 Retinoblastoma
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 81 Multiple endocrine neoplasia
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms and clinical features (Table 81.1)
		Diagnosis
		Management
		The future
Part 12 Ophthalmology
	Chapter 82 Congenital and childhood cataracts
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 83 Colour blindness and achromatopsia
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms
		Clinical features
		Diagnosis
		Management
		The future
	Chapter 84 Retinitis pigmentosa
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms
		Clinical features
		Diagnosis
		Management
		The future
	Chapter 85 Primary congenital glaucoma
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms
		Clinical features
		Diagnosis
		Management
		The future
	Chapter 86 Bardet–Biedl syndrome
		Background
		Epidemiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
Part 13 Renal
	Chapter 87 Polycystic kidney disease
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms
		Clinical features
		Diagnosis
		Management
		The future
	Chapter 88 Nephronophthisis
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms
		Clinical features
		Diagnosis
		Management
		The future
	Chapter 89 Medullary cystic kidney disease
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 90 Alport syndrome
		Background
		Aetiology
		Genetics
		Aetiology
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 91 Cystinosis
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 92 Cystinuria
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms
		Clinical features
		Diagnosis
		Management
		The future
Part 14 Musculoskeletal
	Chapter 93 Marfan syndrome
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 94 Ehlers-Danlos syndrome (EDS)
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms
		Clinical features
		Diagnosis
		Management
		The future
	Chapter 95 Congenital limb deficiencies
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms and clinical features
		Diagnosis
		Management
		The future
	Chapter 96 Duchenne muscular dystrophy
		Background
		Genetics
		Aetiology
		Symptoms
		Clinical features
		Diagnosis
		Clinical features
		The future
	Chapter 97 Charcot–Marie–Tooth (CMT)
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms
		Clinical features
		Diagnosis
		Management
		The future
	Chapter 98 Ankylosing spondylitis
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms
		Clinical features
		Diagnosis
		Management
		The future
	Chapter 99 Skeletal dysplasias
		Background
		Aetiology
		Genetics
		Pathophysiology
		Symptoms
		Clinical features
		Diagnosis
		Management
		The future
Glossary
Index
EULA