Genetic Disorders Among Arab Populations

Acknowledgements

Foreword

Contents

Contributors

Part I: Introduction

Chapter 1: Introduction: Genetic Diversity Among Arabs

Past and Present

Ethnic Diversity

The Arab/Muslim Family

Religion, Culture and Genetic Issues

Consanguineous Marriage and Endogamy

Autosomal Recessive Disorders

Hemoglobinopathies

FMF and Other Auto-inflammatory Disorders

Muscular Dystrophies and Myopathies

New Genetic Syndromes First Reported Among Arabs

Inborn Errors of Metabolism

Classic Phenylketonuria and Other Hyperphenylalaninemia

Other Inborn Errors of Metabolism

Cystic Fibrosis and Congenital Chloride Diarrhea

Osteopetrosis Syndromes

Persistent Hyperinsulinemic Hypoglycemia

Sanjad-Sakati Syndrome

Malformation Syndromes

Xeroderma Pigmentosum

Non-Syndromic Deafness

Osteochondrodysplasias

Genetic Predisposition to Non-disjunction

Male Pseudohermaphroditism

Other Disorders Frequently Diagnosed Among Arabs

Autosomal Dominant and X-Linked Disorders

Interest in the Genetic Disease Among Arabs

This Edition

References

Part II: Demography, Economy, and GeneticServices in Arab Countries

Chapter 2: Arab Demography and Health Provision

Introduction

Geography, History, and Ethnicity

Stylized Economic and Financial Facts

Reevaluation of Stylized Facts

Arab Population Dynamics

The Population Aging Problem

Rural-to-Urban Migration

Health Systems and Health Expenditures

The Pharmaceutical Market Issues

Intercountry Inequalities in Health Indicators

Conclusion

References

Chapter 3: Influences of Systems´ Resources and Health Risk Factors on Genetic Services

Healthcare Systems and Services

Development Levels

Health System Resources

Human Resources

Financial Resources

Risk Factors and Demands

Projection of Health System Performance

Genetic Services in the Arab World

NBS in the Arab World

Conclusion

References

Chapter 4: Endogamy and Consanguineous Marriage in Arab Populations

Introduction

Traditional and Contemporary Patterns of Endogamy in Arab Societies

Consanguineous Marriage Within Arab Societies

The Prevalence and Preferred Types of Consanguineous Marriage

Religion and Consanguinity

Demographic, Social and Economic Correlates of Consanguinity

Contemporary Attitudes Toward Consanguineous Marriage

Endogamy, Consanguinity and Genetic Disease in Arab Populations

Consanguinity and Reproductive Health

Anthropometric Studies at Birth and in Childhood

Early Postnatal Mortality

Consanguinity and Childhood Morbidity

Consanguinity and Chromosome Aberrations

Consanguinity and Early Behavioural Disorders

Consanguinity and Adult-Onset Disease

Genetic Counselling for Consanguineous Couples

Premarital Counselling

Premarital Screening and Carrier Testing

Conclusions

References

Part III: Selected Disease EntitiesPrevalent Among the Arabs

Chapter 5: Familial Mediterranean Fever and Other Autoinflammatory Disorders

Familial Mediterranean Fever (FMF, MIM 249100

Clinical Aspects

The Genetics

Genotype/Phenotype Correlation Patterns

FMF in the Arabs

Clinical Aspects

MEFV Mutations

Genotype/Phenotype Correlation Patterns

Needs and Goals for the Future

TNF Receptor Associated Periodic Syndrome (TRAPS) (FPF, MIM 142680)

Chronic Recurrent Multifocal Osteomyelitis (CRMO, MIM 259680; 609628);1417.1.5

Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne Syndrome (PAPA, MIM 604416)

The Cryopyrinopathies

References

Chapter 6: Muscular Dystrophies and Myopathies in Arab Populations

Epidemiology

Muscular Dystrophies

Severe Childhood Autosomal Recessive Muscular Dystrophy

Molecular Biology

``Adhalin´´: Primary Structure and Muscle Specific Expression

SCARMD in Saudi Arabia

Limb-Girdle Muscular Dystrophy 2B (LG-MD 2B)

Limb-Girdle Muscular Dystrophy, Type 2C (LGMD2C)

Primary Adhalinopathy (a-sarcoglycanopathy, LGMD2D)

beta-Sarcoglycanopathy (LGMD2E)

LGMD2I

Advances in the Molecular and Cell Biology of the Dystrophin-Associated Proteins

Congenital Muscular Dystrophy

Duchenne and Becker Muscular Dystrophies

Screening for Dystrophin Gene

Schwartz-Jampel Syndrome

Advances in Phenotype Characterization, Mapping, and Molecular Genetics

Congenital Myopathies

Myopathy, Early-Onset, with Fatal Cardiomyopathy (EOMFC, MIM 611705, Salih Myopathy)

Mitochondial Disorders

References

Chapter 7: New Syndromes First Reported Among Arabs

Introduction

References

Part IV: Genetic Disorders in Arab Countriesand Geographic Regions

Chapter 8: Genetic Disorders in Egypt

The Country and Population

Historical Background

Current Genetic Facilities in Egypt

Consanguineous Marriages and Their Implications

Reported Genetic Disorders Among Egyptians

Disorders of the Central Nervous System (CNS)

Mental Retardation (MR)

Neural Tube Defects (NTD)

Convulsive Disorders

CNS Malformations

Hereditary Ataxias

Genetic Disorders of the Muscles

Muscular Dystrophies (MD)

Spinal Muscle Atrophy (SMA, MIM 253300)

Skeletal and Limb Malformations

Skeletal Dysplasias

Congenital Contractures

Reduction Defects

Brachydactyly

Other Limb Anomalies and Skeletal Malformations

Hematological Disorders

Beta-thalassemia

Alpha-thalassemia

Fanconi Anemia (MIM: 227650)

Sickle cell disease (OMIM: 603903)

Glucose-6-Phosphate Dehydrogenase Deficiency (G-6PD) Deficiency (MIM: 305900)

Coagulation Defects

Other Haematologic and Immunologic Disorders

Familial Mediterranean Fever (FMF, MIM249100)

Inborn Errors of Metabolism

Phenylketonuria (PKU) (MIM: 261600)

Alpha-One Antitrypsin Deficiency (MIM: 107400) Hereditary Tyrosinemia (MIM276700)

Biotinidase Deficiency (MIM: 253260)

Galactosemia (MIM: 230400)

Lysosomal Storage Disorders

Other Inborn Errors of Metabolism

Endocrine Disorders and Abnormal Sexual Differentiation

Congenital Hypothyroidism

Disorders of Sexual Differentiation (DSD)

Insulin Dependant Diabetes Mellitus

Genodermatosis

Genetic Eye Disorders

Congenital Cataract

Primary Congenital Glaucoma (PCG) (MIM: 231300)

Retinitis Pigmentosa

Retinoblastoma

Other Disorders Affecting the Eye

Congenital Deafness

Miscellaneous Disorders

Novel Syndromes

References

Chapter 9: Genetic Disorders in Ancient Egypt

Ancient Egypt

Biological Evidence

Dwarfs

The Badarian Skeleton

The Dwarf from the Tomb Complex of King Wadj

The Dwarfs from the Tomb of King Semerkhet

The Dwarf Pereniankh

Mucopolysaccaridoses

Osteogenesis Imperfecta

The Stillborn Children of King Tutankhamen

The Pharaoh Siptah: Clubfoot Deformity vs. Polio or Cerebral Palsy?

Facial and Skull Malformations

Vertebrae and Other Spine Anomalies

Sickle Cell Anemia

Arteriosclerosis

Alkaptonuria (Ochronosis)

Artistic Evidence of Genetic Disorders

Dwarfs

Dwarf Gods

God Ptah

The God Bes

Elite Dwarfs

Ordinary Dwarfs

Pharaoh Akhenaten

The Doorkeeper Roma

The Queen of Punt

The Pygmies Dancers

Conclusion

References

Chapter 10: Genetic Diseases in Iraq

Geography and History

The Population

Basic Health Indicators and Genetic Services in Iraq

Consanguineous Marriages

Population Genetics

Genetic Disorders in Iraq

Congenital Malformations

Mental Retardation

Down Syndrome

Infertility Problems

Blood Disorders

Familial Mediterranean Fever (FMF)

Common Multifactorial Diseases

Childhood Blindness

Deafness

Short Stature

Conclusions

References

Chapter 11: Genetic Disorders in Jordan

The Country and Population

Genetic Services

Consanguinity

Chromosomal Disorders

Neurological Disorders

Eye Diseases

Inborn Errors of Metabolism

Cardiovascular Disorders

Pulmonary Disorders

Gatrointestinal Disorders

Genitourinary Disorders

Autoimmune, Autoinflammatory and Rheumatologic Disorders

Endocrinological Disorders

Genodermatosis

Skeletal and Dental Disorders

Hematological and Oncologic Disorders

Conclusion

References

Chapter 12: Genetic Disorders in Kuwait

The Country and Population

Genetic Services

Consanguineous Marriages and Their Implications

Fertility

Genetic Disorders Reported From Kuwait

Chromosomal Abnormalities

Down Syndrome

Trisomy 18

Male Infertility

Female Infertility

Mental Retardation (MR)

Neural Tube Defects (NTD)

Hematological Disorders

Sickle Cell Disease and Thalassemias

Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD deficiency)

Endocrine Disorders

Congenital Hypothyroidism

Congenital Adrenal Hyperplasia (CAH)

Familial Hypophosphatemic Rickets (FHR)

Diabetes Mellitus

Congenital Deafness

Major Congenital Anomalies

Inborn Errors of Metabolism (IEM)

New Syndromes and Variants

Other Disorders Reported from Kuwait

References

Chapter 13: Genetic Disorders in Lebanon

Introduction

The Country and Population

Ethnography of Lebanon

The Genetic Traces of the Phoenicians

Y-Chromosome Diversity in Lebanon

Consanguinity

Population Genetics

Dermatoglyphics

Genetic Markers and Protein Variants

Angiotensin-Converting Enzyme Gene Polymorphism (ACE

Arylamine N-acetyltransferase 1 (NAT1) Genotypes in a Lebanese Population (OMIM *108345)

HLA Class I and II Allele Frequencies

HPA-1 Platelet Antigen Alleles (Integrin, Beta-3

Immunoglobulins IGHA2*M1 and IGHA2*M2

Immunoglobulin lambda Constant

Genetic Diseases in Lebanon

Adrenal Hyperplasia, Congenital, 21-Hydroxylase Deficiency (OMIM +201910)

Albinism, Oculocutaneous, Type 1 (OCA1

Ankylosing Spondylitis (OMIM #106300)

Apnea of Prematurity

Apolipoprotein E Gene Polymorphism (APOE, OMIM +107741)

Arthropathy, Progressive Pseudorheumatoid, of Childhood

Ataxia, Cerebellar, Autosomal Recessive 2 (SCAR2

Ataxia, Cerebellar, Autosomal Recessive 5 (SCAR5

Ataxia Telangiectasia (AT, OMIM #208900)

Bardet-Biedl Syndrome (BBS, OMIM #209900)

Bartter Syndrome Type 4, Infantile, with Sensorineural Deafness (OMIM #602522)

Behçet Syndrome (OMIM %109650)

Brown-Vialetto-Van Laere Syndrome (OMIM %211530)

Cataract, Posterior Polar (CTPP4, OMIM #610623)

Charcot-Marie-Tooth Disease, Type CMT4A (OMIM #214400)

Charcot-Marie-Tooth Disease, CMT4F (OMIM # 214400)

Charcot-Marie-Tooth Disease, CMT4H (OMIM #609311)

Chondrodysplasia with Multiple Dislocations

Chondrodysplasia with Multiple System Anomalies

Cohen Syndrome (OMIM #216550)

Cohen Syndrome, Cutis Verticis Gyrate and Sensorineural Deafness (OMIM 605685, *607817)

Consanguinity and Birth Weight

Consanguinity and Congenital Heart Malformations

Consanguinity and Kidney Disease

Cystic Fibrosis (CF, #219700

Deafness, Autosomal Recessive 1 (DFNB1, OMIM #220290)

Deafness, Autosomal Recessive 9 (DFNB9, OMIM #601071)

Deafness, Autosomal Recessive 13 (DFNB13, OMIM %603098)

Deafness, Autosomal Recessive 21 (DFNB21, OMIM #603629)

Deafness Syndrome, Branchiogenic (OMIM %609166)

Diabetes Mellitus (IDDM, T1D, OMIM %222100)

Diabetes Mellitus (NIDDM, T2D, OMIM #125853)

Dyggve-Melchior-Clausen Syndrome (OMIM #223800)

Ectodermal Dysplasia, Hypohidrotic, X-Linked (XHED, OMIM #305100)

Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive (OMIM #224900)

Ectopia Lentis, Spontaneous Filtering Blebs, Craniofacial Dysmorphism (OMIM %601552)

Enterocolitis, Necrotizing

Epidermolysis Bullosa, Junctional (EBJ), Herlitz Type (OMIM #226700)

Epilepsy Syndromes

Factor V Leiden (F5, OMIM *612309)

Factor XI Deficiency (OMIM *264900)

Factor XIII, A1 (F13A1

Familial Mediterranean Fever (FMF) - Famillial Paroxysmal Polyserositis (FPP) - ``Armenian´´ or ``Periodic´´ disease (OMIM #249100)

Gaucher Disease, Type I (OMIM #230800)

Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency: Favism (OMIM +305900)

Glycogen Storage Disease I (OMIM +232200)

Heart Block, Familial, Type IB (PFHB1B, OMIM %604559)

Heart Defects, Congenital

Hypercholesterolemia, Familial, FH (OMIM #143890)

Hypercholesterolemia, Autosomal Recessive

Hyperhomocysteinemia (OMIM #603174) and MTHFR (OMIM *60793)

Hyperlipoproteinemia, Type I (OMIM #238660)

Hypogonadism, Hypergonadotropic, with Partial Alopecia (OMIM %241090)

Hypogonadism, Hypogonadotropic, with Alopecia

Hypothyroidism

Ichthyosis, Lamellar, 3 (OMIM #604777)

Imerslund-Gräsbeck Syndrome (IGS, OMIM #281100)

Jervell and Lange-Nielsen Syndrome 2 (JLNS2, OMIM #612347)

Lipodystrophy, Congenital, Generalized, Type 2 (BSCL2, Berardinelli-Seip Type 2, OMIM #269700)

Mannose-6-Phosphate Receptor Recognition Defect: Lebanese Type (OMIM %154570)

Mégarbané Syndrome (OMIM 606527)

Mesomelic Dysplasia, Upper-Limb (OMIM %191440)

Methylenetetrahydrofolate Reductase (MTHFR): C677T Mutation (OMIM *607093)

Neuropathy, Hereditary Sensory and Autonomic, Type II (OMIM #201300)

Odontoonychodermal Dysplasia (OMIM #257980)

Osseous Dysplasia with Severe Short Stature, Multiple Dislocations, and Delayed Bone Age

Osteopetrosis, Autosomal Recessive (OPTB1, TCIRG1, OMIM #259700 and OPTB5, OSTM1, OMIM #259720)

Plasminogen Activator Inhibitor-1 (PAI-1) gene 4G/5G alleles

Premature Ovarian Failure with POF1B Mutation (OMIM #300604)

Pseudohermaphroditism (Pseudovaginal Perineoscrotal Hypospadias)

Sandhoff Disease (OMIM #268800) )

Sickle-Cell Anemia (OMIM #603903) and Thalassemia Major (OMIM+141900)

Sjögren-Larsson Syndrome (SLS, OMIM #270200)

Smith-Lemli-Opitz syndrome (SLOS, OMIM #270400)

Spondyloepimetaphyseal Dysplasia with Multiple Dislocations (OMIM %603546)

Tay-Sachs Disease, juvenile (OMIM #272800)

Usher Syndrome Type 1C (USH1C, OMIM #276904)

Vitamin K-Dependent Clotting Factors, Deficiency of (Familial Multiple Coagulation Factor Deficiency, FMFD, OMIM #277450)

Weill-Marchesani Syndrome, Autosomal Recessive (WMS

Wolfram Syndrome (DIDMOAD, WFS1, OMIM #222300)

Delivery of Care to Patients with Genetic Diseases and Genetic Programs

References

Chapter 14: Genetic Disorders in Libya

The Country

The Population

Genetic Services

Consanguinity

Genetic Disorders Reported from Libya

Chromosomal Disorders

Disorders of the Central Nervous System (CNS)

Neural Tube Defects (NTD)

Hereditary Ataxias

Neuromuscular Disorders

Spinal Muscular Atrophy (SMA) (MIM 253300)

Hereditary Hematological Disorders

Inborn Errors of Metabolism (IEM) and Lysosomal Storage Disorders

Phenylketonuria (MIM 261600)

Tyrosinemia type I (MIM 276700)

Lysosomal Storage Disorders

Familial Hypercholesterolemia

Endocrine Disorders

Congenital Hypothyroidism

Insulin-dependent Diabetes Mellitus

Genodermatosis

Xeroderma Pigmentosum (XP MIM 278720)

Lipoid proteinosis (MIM 247100)

Congenital Sensorineural Deafness

Miscellaneous Disorders/Syndromes

Comments

References

Chapter 15: Genetic Disorders in Morocco

The Country and Population

Genetic Services

Consanguinity and Genetic Diseases in Morocco

Chromosomal Abnormalities

Genetic Disorders in Morocco

Neurosensorial Diseases

Hearing Loss

Glaucoma

Retinitis Pigmentosa

Leber Congenital Amaurosis

Neuromuscular Diseases

Dystrophinopathies

Limb-Girdle Muscular Dystrophy

Congenital Muscular Dystrophy

Facioscapulohumeral Muscular Dystrophy

Spinal Muscular Atrophy

Charcot-Marie-Tooth Disease

Hereditary Spastic Paraplegia

Hematological Diseases

Thalassemia

Sickle Cell Anemia

Hemophilia

G6PD Deficiency

Endocrine and Metabolic Diseases

Congenital Adrenal Hyperplasia

Familial Hypercholesterolemia

Mucopolysaccharidosis

Dermatologic Diseases

Xeroderma Pigmentosum

Hypohydrotic/Anhydrotic Ectodermal Dysplasia

Incontinentia Pigmenti

Cancer Genetics

Breast Cancer

Colorectal Cancer

Multiple Endocrine Neoplasia Type 2

Familial Mediterranean Fever

Cystic Fibrosis

Infertility Associated with Multi-tailed Spermatozoa and Large Heads

References

Chapter 16: Genetic Disorders in Oman

The Country and Population

Oman History

Medical and Genetic Services in Oman

Genetic Disorders in Oman

Chromosomal Rearrangements

Single Gene Defects

Autosomal Recessive Diseases

Hemoglobinopathies

Inborn Errors of Metabolism

Neurogenetic Disorders

Osteodysplasias and Spondylodysplasias

Diseases Affecting Kidneys, Liver and Gut

Immunodeficiencies and Chromosomal Instability Syndromes

Genodermatoses

Diseases Affecting Vision and Hearing

Miscellaneous Recessive Disorders

Autosomal Dominant Conditions

X-Linked Conditions

Novel Phenotypes and Variants, and Novel Genotypes

Comment

References

Chapter 17: Genetic Disorders Among the Palestinians

History of Palestine

Consanguinity and Family Patterns

Genetic Markers and Polymorphism

Genetics Disorders Among the Palestinians

Chromosomal Abnormalities

Common Autosomal Recessive Disorders Reported Among Palestinians

Hemoglobinopathies

Familial Mediterranean Fever

Cystic Fibrosis

Phenylketonuria

Bardet-Biedl Syndrome

Meckel Syndrome

Lysosomal Disorders

Familial Hydrocephalus

Congenital Adrenal Hyperplasia and Male Pseudohermaphroditism

Genetic Disorders Causing Blindness

Other Apparently Common Disorders

Patterns of Inborn Errors of Metabolism Detected among Palestinians

New Disorders First Reported Among Palestinians

Rare Disorders

Cancer

General Observations

Comments

References

Chapter 18: Genetic Disorders in Qatar

Geography and History

Population of Qatar

Genetic Services

Consanguinity

Genetic Disorders Reported from Qatar

Chromosomal Disorders

Multifactorial Birth Defects

Autosomal Dominant Disorders

X-Linked Disorders

Autosomal Recessive Disorders

Cystic Fibrosis (CF, MIM 219700

Inborn Errors of Metabolism

Homocystinuria (CBS, MIM 236200)

Arterial Tortuosity Syndrome (ATS, MIM 208050)

Nonsyndromic Microphthalmia/Anophthalmia (MIM 251600, 610092, 6200930)

Teebi-Shaltout Syndrome (MIM 272950)

Epidermolysis Bullosa, Junctional Type (MIM226700)

Endocrine Disorders

Hemoglobinopathies

Miscellaneous Disorders/Syndromes

Comments

References

Chapter 19: Genetic Disorders in Saudi Arabia

Introduction

Health Care System and Health Indicators

Genetic Disorders in Saudi Arabia

Inherited Metabolic Diseases

Blood Disorders

Neurological Disorders

Malformation Syndromes

Endocrine Disorders

Rheumatological and Musculoskeletal Disorders

Ophthalmological Disorders

Other Inherited Disorders

Novel Syndromes

Polymorphisms and Common Diseases in Saudi Arabia

Coronary Artery Diseases (CADs)

Cancer

Diabetes Mellitus (DM)

Other Diseases

Polymorphisms in the Saudi Population

References

URLs

Chapter 20: Genetic Disorders in Sudan

The Country and Population

Consanguinity

Population Genetics

Genetic Disorders in Sudan

Genetic Susceptibility to Infectious Diseases

Malaria

Interaction Between Red Blood Cell Abnormalities and Malaria

Segregation and Genetic Linkage Analyses

Schistosomiasis

Leishmaniasis

Red Cell Genetic Disorders

Sickle Cell Disease

Thalassemia

Other Hemoglobinopathies

Glucose-6-Phosphate Dehydrogenase Deficiency

Disorders of Hemostasis

Inherited Metabolic Disorders

Amino Acid Disorders

Carbohydrate Disorders

Mucopolysaccharidosis

Metabolic Bone Disease

Skeletal Dysplasias

Endocrine Disorders

Disorder of the Digestive System

Neurogenetic Disorders

Birth Defects

NTDs

Neuromuscular Disorders

Parkinson´s Disease

Hereditary Ataxia

Cutaneous and Neurocutaneous Disorders

Cancer Genetics

New Syndromes

Cytogenetic Abnormalities

References

Chapter 21: Genetic Disorders in Tunisia

The Geography and Ethnography of Tunisia

Genetic Services

Consanguinity

Genetic and Congenital Disorders

Red Cell Genetic Disorders

beta-Thalassemia (OMIM 141900)

a-Thalassemia (OMIM 141800)

Sickle Cell Disease (OMIM 603903)

Glucose-6-Phosphate Dehydrogenase (OMIM 305900)

Fanconi Anemia (OMIM 227650)

Chromosomal Disorders

Down Syndrome (OMIM 190685)

Turner Syndrome

Klinefelter´s Syndrome

Neuromuscular and Neurodegenerative Disorders

Muscular Dystrophies

Spinal Muscular Atrophy (OMIM 253300)

Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency (OMIM 608931)

Parkinson Disease (OMIM 168600)

Alzheimer Disease (OMIM 104300)

Genetic Endocrine Disorders

Congenital Adrenal Hyperplasia (OMIM 201910)

Autoimmune Thyroid Diseases

Cystic Fibrosis (OMIM 219700)

Metabolic and Nutritional Diseases

Phenylketonuria (OMIM 261600)

Insulin-Dependent Diabetes Mellitus (OMIM 222100)

Noninsulin-Dependent Diabetes Mellitus (OMIM 125853)

Inflammatory Disorders

Familial Mediterranean Fever Gene (OMIM 608107)

Systemic Lupus Erythematosus (OMIM 152700)

Dermatological Disorders

Xeroderma Pigmentosum (XP)

Dystrophic Epidermolysis Bullosa (RDEB OMIM 226600

Deafness

Nonsyndromic Deafness (OMIM 220290)

Usher Syndrome Type IIA (OMIM 276901)

X-Linked Mental Retardations (OMIM 300419)

Hereditary Multiple Exostoses Type I (OMIM 133700)

Predisposition to Cancer

Bladder Cancer (OMIM 109800)

Prostate Cancer (OMIM 176807)

Breast Cancer (OMIM 114480)

Nasopharyngeal Carcinoma (OMIM 161550)

Colorectal Cancer (OMIM 114500)

Conclusion

References

Chapter 22: Genetic Disorders in the United Arab Emirates

The Country and Population

Population History

Current Population

Consanguinity

Genetic Services

Genetic Disorders in the UAE

beta-Thalassemia

Sickle Cell Disease (SCD) and Other Haemoglobinopathies

a-Thalassemia

G6PD Deficiency

Cystic Fibrosis (CF) (MIM 219700)

Deafness

Malformation Syndromes

Bardet-Biedl Syndrome (MIM 209900)

Cohen Syndrome (MIM 216550)

Donnai-Barrow Syndrome (MIM 222448)

Sanjad-Sakati Syndrome (MIM 241410)

Hennekam Syndrome (MIM 235510)

Fraser Syndrome (MIM 219000)

Mowat-Wilson Syndrome (MIM 235730)

Down Syndrome

Brain Malformation Syndromes

Joubert Syndrome (MIM 213300)

Meckel Syndrome (MIM 249000)

AR Microcephaly (MIM 608716)

Osteochondrodysplasias

Stuve-Wiedemann Syndrome (MIM 601559)

Microcephalic Osteodysplastic Primordial Dwarfism Type II (MIM 210720)

Fibrochondrogenesis (MIM 228520)

Raine syndrome (MIM 279775)

Dygve-Melchior-Clausen Syndrome (MIM 304950)

Ellis-van-Creveld (MIM 225500) and Jeune Syndromes (MIM 208500)

Larsen (MIM245600) and Desbuquois (MIM 251450) Syndromes

Acromesomelic Dysplasia

Limb/Pelvis/Hypoplasia/Aplasia Syndrome (MIM 276820)

Wollcott-Rallison Syndrome (MIM 226980)

Miscellaneous Bone Dysplasias

Neurometabolic Disorders

Genodermatosis

Ehlers-Danlos Syndrome VIA (EDSVIA) (MIM 225400)

Epidermolysis Bullosa

Atopic Dermatitis

Congenital Ichthyosis and Related Conditions

Waardenburg-Shah Syndrome (MIM 277580)

Erythrokeratodermia Variabilis (MIM 133200)

Mal de Meleda Disease (MIM 248300)

Restrictive dermatopathy (MIM 275210)

X-Linked Dyskeratosis Congenita (MIM 305000)

Neuromuscular Disorders

Spinal Muscular Atrophy, Type I (MIM 253300)

Muscular Dystrophy, Congenital, 1B (MIM 604801)

Myotonic Dystrophy 1 (MIM 160900)

Neurogenetic Disorders Other than Neurodegenerative Disorders

Congenital Insensitivity to Pain

AR Spastic Paraplegia with Thin Corpus Callosum

Crisponi Syndrome (MIM 601378)

Progeriod Syndromes

Generalized Lipodystrophy of Seip (MIM 269700)

Neonatal Progeria (Wiedemann-Rautenstrauch Syndrome) (MIM 264090)

SHORT Syndrome (MIM 269880)

Gerodermia Osteodysplastica (GO) (MIM 231070)

Leprechaunism and Leprechaunism-like Syndromes (MIM 246200)

Setleis Syndrome (MIM 227260)

Genetic Disorders of the Kidneys

Genetic Disorders of the Eyes

Miscellaneous Genetic Disorders

Future Directions

References

Chapter 23: Genetic Disorders Among Jews from Arab Countries

History of Jews from Arab Countries

Pan Ethnic Diseases

Familial Mediterranean Fever (FMF, MIM 249100)

Cystic Fibrosis (CF, MIM 219700)

Fragile X (MIM 309550)

Non syndromic Deafness (MIM 121011)

Spinal Muscular Atrophy (SMA, MIM 253300)

Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD, MIM 305900)

Thalassemias (MIM 141800, 141850, 141900)

Alpha Thalassemia (MIM 141800, 141850)

beta-Thalassemia (MIM 141900)

Usher Syndrome Type IIA (USH2A MIM 276901)

Iraq, Kurdistan and Iran

Beta-Thalassemia (MIM, 141900) and G6PD Deficiency (MIM 305900)

Factor XI Deficiency (PTA, MIM 264900)

Glanzmann´s Thrombasthenia (MIM 273800)

Familial Mediterranean Fever (FMF, MIM 249100)

Costeff Optic Atrophy Syndrome (MIM 258501)

Pituitary Dwarfism II (Laron type, MIM 262500)

Cystic Fibrosis (CF, MIM 219700)

Hereditary Breast-Ovarian Cancer (MIM 113705, 600185)

Congenital Myasthenia Syndrome (CMS, MIM 608931)

Corticosterone Methyloxydase Deficiency Type II (CMO-II, MIM 610600)

Dubin-Johnson Syndrome (DJS, MIM 237500)

Factor VII Deficiency (FVII, MIM 227500)

Achromatopsia II (MIM 216900)

Colobomatous Microphthalmia (MIM 610092)

Polyglandular Syndrome (PGA I, MIM 240300)

Inclusion Body Myopathy 2 (IBM2, MIM 600737)

The Near East

Yemen

Thalassemia (HBA2, MIM 141850)

Phenylketonuria (PKU, MIM 261600)

Metachromatic Leukodystrophy (MLD, MIM 250100)

Chronic Familial Neutropenia (Benign FL, MIM 162700)

Peroxidase and Phospholipid Deficiency in Eosinophils (MIM 261500)

Hereditary Breast-Ovarian Cancer (MIM 113705, 600185)

Myotonic Dystrophy I (MIM 160900)

Retinitis Pigmentosa (RP, MIM 608381)

Cystic Fibrosis (CF, MIM 219700)

Rare Diseases

North African Jews

Familial Mediterranean Fever (FMF, MIM 249100)

Glycogen Storage Disease III (GSD, MIM 232400)

Libya

Creutzfeldt-Jakob Disease (CJD, MIM 123400)

Cystinuria (MIM 220100)

Muscular Dystrophy Type 2B (Limb-Girdle MD (LGMD), MIM 253601)

Cystic Fibrosis (CF, MIM 219700)

Tunisia

Phenylketonuria (PKU, MIM 261600) and Hyperphenylalaninemia (MIM 612349)

Brittle Cornea Syndrome (BCS, MIM 229200)

Cystic Fibrosis (CF, MIM 219700)

Algeria

Morocco

Oculocutaneous Albinism (MIM 203100)

Ataxia Telangiectasia (AT, MIM 208900)

Tay Sachs (TSD, MIM 272800)

Adrenal Hyperplasia IV (MIM 202010)

Fanconi Anemia A (MIM 607139)

Phenylketonuria and Hyperphenylalaninemia (MIM 612349)

Cerebrotendinous Xanthomatosis (CTX, MIM 213700)

Dubin-Johnson Syndrome (DJS, MIM 237500)

Factor VII Deficiency (FVII, MIM 227500)

Muscular Dystrophy I (MIM 253600)

Concluding Remarks

References

Part V: Cultural and Religious AttitudesTowards Genetic Issues

24: Prevention and Care of Genetic Disorders: An Islamic Perspective

Islam and Ethics

Impact of Genetic Diseases on the Muslim Population

Genetics Counseling

Medical Genetics and Genomics in Developing Countries

Genomic Research and Islam

Population Genetic Screening Programs and Islamic Ethics

Primary Prevention Strategies

Control of Teratogens

Premarital or Prepregnancy Genetic Screening

Secondary Prevention Strategies

Prevention Based on Reproductive Options

Contraception and Sterilization

Adoption

Donation of a Sperm, Ovum, or Preembryo, or Motherhood Surrogacy

Preimplantation Diagnosis

Ethically Difficult Indications

Prenatal Diagnosis

Cloning and Stem Cell Research

Cord Blood Transplantation

Somatic Gene Therapy

Conclusions

References

Chapter 25: Genetic Counseling in the Middle East

What is Genetic Counseling?

Development of the Genetic Counseling Profession

The Genetic Counseling Profession in the Middle East

Islam and Genetic Counseling

Assisted Reproduction

Termination of Pregnancy

Teratogens

Adoption

Contraception and Sterilization

Cloning

Premarital Screening

Impact of Faith on the Individual

Cultural Issues

Consanguinity

Clinical Photography

Illness and Visitation of the Ill

Additional Cultural Beliefs Impacting Health Care

References

Index