Genetic Disorders Among Arab Populations (eBook)

Acknowledgements 8
Foreword 10
Contents 12
Contributors 16
Part I: Introduction 20
Chapter 1: Introduction: Genetic Diversity Among Arabs 21
Past and Present 21
Ethnic Diversity 23
The Arab/Muslim Family 23
Religion, Culture and Genetic Issues 24
Consanguineous Marriage and Endogamy 24
Autosomal Recessive Disorders 25
Hemoglobinopathies 25
FMF and Other Auto-inflammatory Disorders 26
Muscular Dystrophies and Myopathies 26
New Genetic Syndromes First Reported Among Arabs 27
Inborn Errors of Metabolism 29
Classic Phenylketonuria and Other Hyperphenylalaninemia 30
Other Inborn Errors of Metabolism 31
Cystic Fibrosis and Congenital Chloride Diarrhea 32
Osteopetrosis Syndromes 34
Persistent Hyperinsulinemic Hypoglycemia 34
Sanjad-Sakati Syndrome 34
Malformation Syndromes 35
Xeroderma Pigmentosum 35
Non-Syndromic Deafness 36
Osteochondrodysplasias 36
Genetic Predisposition to Non-disjunction 37
Male Pseudohermaphroditism 37
Other Disorders Frequently Diagnosed Among Arabs 38
Autosomal Dominant and X-Linked Disorders 38
Interest in the Genetic Disease Among Arabs 39
This Edition 40
References 41
Part II: Demography, Economy, and GeneticServices in Arab Countries 53
Chapter 2: Arab Demography and Health Provision 54
Introduction 54
Geography, History, and Ethnicity 55
Stylized Economic and Financial Facts 57
Reevaluation of Stylized Facts 60
Arab Population Dynamics 62
The Population Aging Problem 65
Rural-to-Urban Migration 66
Health Systems and Health Expenditures 67
The Pharmaceutical Market Issues 71
Intercountry Inequalities in Health Indicators 71
Conclusion 78
References 79
Chapter 3: Influences of Systems´ Resources and Health Risk Factors on Genetic Services 81
Healthcare Systems and Services 81
Development Levels 84
Health System Resources 84
Human Resources 85
Financial Resources 87
Risk Factors and Demands 88
Projection of Health System Performance 94
Genetic Services in the Arab World 95
NBS in the Arab World 97
Conclusion 98
References 98
Chapter 4: Endogamy and Consanguineous Marriage in Arab Populations 100
Introduction 100
Traditional and Contemporary Patterns of Endogamy in Arab Societies 100
Consanguineous Marriage Within Arab Societies 101
The Prevalence and Preferred Types of Consanguineous Marriage 101
Religion and Consanguinity 104
Demographic, Social and Economic Correlates of Consanguinity 105
Contemporary Attitudes Toward Consanguineous Marriage 106
Endogamy, Consanguinity and Genetic Disease in Arab Populations 107
Consanguinity and Reproductive Health 107
Anthropometric Studies at Birth and in Childhood 108
Early Postnatal Mortality 109
Consanguinity and Childhood Morbidity 109
Consanguinity and Chromosome Aberrations 110
Consanguinity and Early Behavioural Disorders 111
Consanguinity and Adult-Onset Disease 111
Genetic Counselling for Consanguineous Couples 112
Premarital Counselling 113
Premarital Screening and Carrier Testing 113
Conclusions 114
References 116
Part III: Selected Disease EntitiesPrevalent Among the Arabs 124
Chapter 5: Familial Mediterranean Fever and Other Autoinflammatory Disorders 125
Familial Mediterranean Fever (FMF, MIM 249100 MEFV, MIM 608107)125
Clinical Aspects 126
The Genetics 128
Genotype/Phenotype Correlation Patterns 130
FMF in the Arabs 131
Clinical Aspects 132
MEFV Mutations 134
Genotype/Phenotype Correlation Patterns 138
Needs and Goals for the Future 139
TNF Receptor Associated Periodic Syndrome (TRAPS) (FPF, MIM 142680) 140
Chronic Recurrent Multifocal Osteomyelitis (CRMO, MIM 259680 609628)
Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne Syndrome (PAPA, MIM 604416) 145
The Cryopyrinopathies 145
References 147
Chapter 6: Muscular Dystrophies and Myopathies in Arab Populations 158
Epidemiology 158
Muscular Dystrophies 159
Severe Childhood Autosomal Recessive Muscular Dystrophy 159
Molecular Biology 162
``Adhalin´´: Primary Structure and Muscle Specific Expression 165
SCARMD in Saudi Arabia 165
Limb-Girdle Muscular Dystrophy 2B (LG-MD 2B) 167
Limb-Girdle Muscular Dystrophy, Type 2C (LGMD2C) 168
Primary Adhalinopathy (a-sarcoglycanopathy, LGMD2D) 169
beta-Sarcoglycanopathy (LGMD2E) 170
LGMD2I 171
Advances in the Molecular and Cell Biology of the Dystrophin-Associated Proteins 171
Congenital Muscular Dystrophy 172
Duchenne and Becker Muscular Dystrophies 174
Screening for Dystrophin Gene 175
Schwartz-Jampel Syndrome 176
Advances in Phenotype Characterization, Mapping, and Molecular Genetics 178
Congenital Myopathies 179
Myopathy, Early-Onset, with Fatal Cardiomyopathy (EOMFC, MIM 611705, Salih Myopathy) 180
Mitochondial Disorders 181
References 183
Chapter 7: New Syndromes First Reported Among Arabs 193
Introduction 54
References 218
Part IV: Genetic Disorders in Arab Countriesand Geographic Regions 229
Chapter 8: Genetic Disorders in Egypt 230
The Country and Population 230
Historical Background 230
Current Genetic Facilities in Egypt 233
Consanguineous Marriages and Their Implications 233
Reported Genetic Disorders Among Egyptians 235
Disorders of the Central Nervous System (CNS) 235
Mental Retardation (MR) 235
Neural Tube Defects (NTD) 236
Convulsive Disorders 236
CNS Malformations 236
Hereditary Ataxias 237
Genetic Disorders of the Muscles 238
Muscular Dystrophies (MD) 238
Spinal Muscle Atrophy (SMA, MIM 253300) 239
Skeletal and Limb Malformations 239
Skeletal Dysplasias 240
Congenital Contractures 241
Reduction Defects 242
Brachydactyly 243
Other Limb Anomalies and Skeletal Malformations 243
Hematological Disorders 245
Beta-thalassemia 246
Alpha-thalassemia 248
Fanconi Anemia (MIM: 227650) 248
Sickle cell disease (OMIM: 603903) 248
Glucose-6-Phosphate Dehydrogenase Deficiency (G-6PD) Deficiency (MIM: 305900) 249
Coagulation Defects 249
Other Haematologic and Immunologic Disorders 250
Familial Mediterranean Fever (FMF, MIM249100) 250
Inborn Errors of Metabolism 251
Phenylketonuria (PKU) (MIM: 261600) 251
Alpha-One Antitrypsin Deficiency (MIM: 107400) Hereditary Tyrosinemia (MIM276700) 253
Biotinidase Deficiency (MIM: 253260) 253
Galactosemia (MIM: 230400) 253
Lysosomal Storage Disorders 253
Other Inborn Errors of Metabolism 255
Endocrine Disorders and Abnormal Sexual Differentiation 255
Congenital Hypothyroidism 255
Disorders of Sexual Differentiation (DSD) 256
Insulin Dependant Diabetes Mellitus 258
Genodermatosis 259
Genetic Eye Disorders 260
Congenital Cataract 261
Primary Congenital Glaucoma (PCG) (MIM: 231300) 261
Retinitis Pigmentosa 261
Retinoblastoma 261
Other Disorders Affecting the Eye 261
Congenital Deafness 262
Miscellaneous Disorders 263
Novel Syndromes 265
References 267
Chapter 9: Genetic Disorders in Ancient Egypt 284
Ancient Egypt 284
Biological Evidence 284
Dwarfs 285
The Badarian Skeleton 285
The Dwarf from the Tomb Complex of King Wadj 286
The Dwarfs from the Tomb of King Semerkhet 286
The Dwarf Pereniankh 286
Mucopolysaccaridoses 288
Osteogenesis Imperfecta 290
The Stillborn Children of King Tutankhamen 290
The Pharaoh Siptah: Clubfoot Deformity vs. Polio or Cerebral Palsy? 292
Facial and Skull Malformations 292
Vertebrae and Other Spine Anomalies 293
Sickle Cell Anemia 294
Arteriosclerosis 295
Alkaptonuria (Ochronosis) 295
Artistic Evidence of Genetic Disorders 295
Dwarfs 296
Dwarf Gods 297
God Ptah 297
The God Bes 298
Elite Dwarfs 299
Ordinary Dwarfs 300
Pharaoh Akhenaten 301
The Doorkeeper Roma 302
The Queen of Punt 302
The Pygmies Dancers 303
Conclusion 304
References 305
Chapter 10: Genetic Diseases in Iraq 307
Geography and History 307
The Population 308
Basic Health Indicators and Genetic Services in Iraq 309
Consanguineous Marriages 310
Population Genetics 312
Genetic Disorders in Iraq 313
Congenital Malformations 316
Mental Retardation 318
Down Syndrome 319
Infertility Problems 320
Blood Disorders 321
Familial Mediterranean Fever (FMF) 324
Common Multifactorial Diseases 325
Childhood Blindness 326
Deafness 326
Short Stature 327
Conclusions 327
References 328
Chapter 11: Genetic Disorders in Jordan 334
The Country and Population 334
Genetic Services 336
Consanguinity 336
Chromosomal Disorders 338
Neurological Disorders 338
Eye Diseases 341
Inborn Errors of Metabolism 341
Cardiovascular Disorders 343
Pulmonary Disorders 343
Gatrointestinal Disorders 344
Genitourinary Disorders 345
Autoimmune, Autoinflammatory and Rheumatologic Disorders 345
Endocrinological Disorders 347
Genodermatosis 348
Skeletal and Dental Disorders 348
Hematological and Oncologic Disorders 349
Conclusion 351
References 351
Chapter 12: Genetic Disorders in Kuwait 362
The Country and Population 362
Genetic Services 363
Consanguineous Marriages and Their Implications 364
Fertility 364
Genetic Disorders Reported From Kuwait 365
Chromosomal Abnormalities 365
Down Syndrome 365
Trisomy 18 366
Male Infertility 366
Female Infertility 367
Mental Retardation (MR) 367
Neural Tube Defects (NTD) 367
Hematological Disorders 368
Sickle Cell Disease and Thalassemias 368
Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD deficiency) 368
Endocrine Disorders 368
Congenital Hypothyroidism 368
Congenital Adrenal Hyperplasia (CAH) 369
Familial Hypophosphatemic Rickets (FHR) 369
Diabetes Mellitus 369
Congenital Deafness 370
Major Congenital Anomalies 370
Inborn Errors of Metabolism (IEM) 370
New Syndromes and Variants 377
Other Disorders Reported from Kuwait 377
References 377
Chapter 13: Genetic Disorders in Lebanon 385
Introduction 385
The Country and Population 385
Ethnography of Lebanon 398
The Genetic Traces of the Phoenicians 400
Y-Chromosome Diversity in Lebanon 400
Consanguinity 400
Population Genetics 401
Dermatoglyphics 401
Genetic Markers and Protein Variants 402
Angiotensin-Converting Enzyme Gene Polymorphism (ACE OMIM +106180)402
Arylamine N-acetyltransferase 1 (NAT1) Genotypes in a Lebanese Population (OMIM *108345) 403
HLA Class I and II Allele Frequencies 403
HPA-1 Platelet Antigen Alleles (Integrin, Beta-3 ITGB3 OMIM +173470)404
Immunoglobulins IGHA2*M1 and IGHA2*M2 404
Immunoglobulin lambda Constant 404
Genetic Diseases in Lebanon 404
Adrenal Hyperplasia, Congenital, 21-Hydroxylase Deficiency (OMIM +201910) 405
Albinism, Oculocutaneous, Type 1 (OCA1 OMIM #203100)405
Ankylosing Spondylitis (OMIM #106300) 405
Apnea of Prematurity 406
Apolipoprotein E Gene Polymorphism (APOE, OMIM +107741) 406
Arthropathy, Progressive Pseudorheumatoid, of Childhood PF (#208230)406
Ataxia, Cerebellar, Autosomal Recessive 2 (SCAR2 OMIM %213200)407
Ataxia, Cerebellar, Autosomal Recessive 5 (SCAR5 OMIM %606937)407
Ataxia Telangiectasia (AT, OMIM #208900) 407
Bardet-Biedl Syndrome (BBS, OMIM #209900) 407
Bartter Syndrome Type 4, Infantile, with Sensorineural Deafness (OMIM #602522) 408
Behçet Syndrome (OMIM %109650) 408
Brown-Vialetto-Van Laere Syndrome (OMIM %211530) 408
Cataract, Posterior Polar (CTPP4, OMIM #610623) 408
Charcot-Marie-Tooth Disease, Type CMT4A (OMIM #214400) 409
Charcot-Marie-Tooth Disease, CMT4F (OMIM # 214400) 409
Charcot-Marie-Tooth Disease, CMT4H (OMIM #609311) 409
Chondrodysplasia with Multiple Dislocations 409
Chondrodysplasia with Multiple System Anomalies 409
Cohen Syndrome (OMIM #216550) 410
Cohen Syndrome, Cutis Verticis Gyrate and Sensorineural Deafness (OMIM 605685, *607817) 410
Consanguinity and Birth Weight 410
Consanguinity and Congenital Heart Malformations 411
Consanguinity and Kidney Disease 411
Cystic Fibrosis (CF, #219700 CFTR, *602421)411
Deafness, Autosomal Recessive 1 (DFNB1, OMIM #220290) 412
Deafness, Autosomal Recessive 9 (DFNB9, OMIM #601071) 412
Deafness, Autosomal Recessive 13 (DFNB13, OMIM %603098) 412
Deafness, Autosomal Recessive 21 (DFNB21, OMIM #603629) 413
Deafness Syndrome, Branchiogenic (OMIM %609166) 413
Diabetes Mellitus (IDDM, T1D, OMIM %222100) 413
Diabetes Mellitus (NIDDM, T2D, OMIM #125853) 413
Dyggve-Melchior-Clausen Syndrome (OMIM #223800) 414
Ectodermal Dysplasia, Hypohidrotic, X-Linked (XHED, OMIM #305100) 414
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive (OMIM #224900) 414
Ectopia Lentis, Spontaneous Filtering Blebs, Craniofacial Dysmorphism (OMIM %601552) 414
Enterocolitis, Necrotizing 415
Epidermolysis Bullosa, Junctional (EBJ), Herlitz Type (OMIM #226700) 415
Epilepsy Syndromes 415
Factor V Leiden (F5, OMIM *612309) 415
Factor XI Deficiency (OMIM *264900) 416
Factor XIII, A1 (F13A1 OMIM +134570)416
Familial Mediterranean Fever (FMF) - Famillial Paroxysmal Polyserositis (FPP) - ``Armenian´´ or ``Periodic´´ disease (OMIM #249100) 416
Gaucher Disease, Type I (OMIM #230800) 418
Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency: Favism (OMIM +305900) 418
Glycogen Storage Disease I (OMIM +232200) 419
Heart Block, Familial, Type IB (PFHB1B, OMIM %604559) 419
Heart Defects, Congenital 419
Hypercholesterolemia, Familial, FH (OMIM #143890) 420
Hypercholesterolemia, Autosomal Recessive ARH (OMIM #603813)420
Hyperhomocysteinemia (OMIM #603174) and MTHFR (OMIM *60793) 421
Hyperlipoproteinemia, Type I (OMIM #238660) 421
Hypogonadism, Hypergonadotropic, with Partial Alopecia (OMIM %241090) 421
Hypogonadism, Hypogonadotropic, with Alopecia 422
Hypothyroidism 422
Ichthyosis, Lamellar, 3 (OMIM #604777) 422
Imerslund-Gräsbeck Syndrome (IGS, OMIM #281100) 422
Jervell and Lange-Nielsen Syndrome 2 (JLNS2, OMIM #612347) 422
Lipodystrophy, Congenital, Generalized, Type 2 (BSCL2, Berardinelli-Seip Type 2, OMIM #269700) 423
Mannose-6-Phosphate Receptor Recognition Defect: Lebanese Type (OMIM %154570) 423
Mégarbané Syndrome (OMIM 606527) 424
Mesomelic Dysplasia, Upper-Limb (OMIM %191440) 424
Methylenetetrahydrofolate Reductase (MTHFR): C677T Mutation (OMIM *607093) 424
Neuropathy, Hereditary Sensory and Autonomic, Type II (OMIM #201300) 424
Odontoonychodermal Dysplasia (OMIM #257980) 425
Osseous Dysplasia with Severe Short Stature, Multiple Dislocations, and Delayed Bone Age 425
Osteopetrosis, Autosomal Recessive (OPTB1, TCIRG1, OMIM #259700 and OPTB5, OSTM1, OMIM #259720) 425
Plasminogen Activator Inhibitor-1 (PAI-1) gene 4G/5G alleles 426
Premature Ovarian Failure with POF1B Mutation (OMIM #300604) 426
Pseudohermaphroditism (Pseudovaginal Perineoscrotal Hypospadias) 426
Sandhoff Disease (OMIM #268800) ) 426
Sickle-Cell Anemia (OMIM #603903) and Thalassemia Major (OMIM+141900) 427
Sjögren-Larsson Syndrome (SLS, OMIM #270200) 430
Smith-Lemli-Opitz syndrome (SLOS, OMIM #270400) 430
Spondyloepimetaphyseal Dysplasia with Multiple Dislocations (OMIM %603546) 430
Tay-Sachs Disease, juvenile (OMIM #272800) 430
Usher Syndrome Type 1C (USH1C, OMIM #276904) 431
Vitamin K-Dependent Clotting Factors, Deficiency of (Familial Multiple Coagulation Factor Deficiency, FMFD, OMIM #277450) 432
Weill-Marchesani Syndrome, Autosomal Recessive (WMS OMIM #277600)432
Wolfram Syndrome (DIDMOAD, WFS1, OMIM #222300) 432
Delivery of Care to Patients with Genetic Diseases and Genetic Programs 433
References 433
Chapter 14: Genetic Disorders in Libya 450
The Country 450
The Population 451
Genetic Services 452
Consanguinity 452
Genetic Disorders Reported from Libya 452
Chromosomal Disorders 453
Disorders of the Central Nervous System (CNS) 453
Neural Tube Defects (NTD) 453
Hereditary Ataxias 454
Neuromuscular Disorders 454
Spinal Muscular Atrophy (SMA) (MIM 253300) 454
Hereditary Hematological Disorders 455
Inborn Errors of Metabolism (IEM) and Lysosomal Storage Disorders 455
Phenylketonuria (MIM 261600) 456
Tyrosinemia type I (MIM 276700) 456
Lysosomal Storage Disorders 456
Familial Hypercholesterolemia 456
Endocrine Disorders 457
Congenital Hypothyroidism 457
Insulin-dependent Diabetes Mellitus 457
Genodermatosis 457
Xeroderma Pigmentosum (XP MIM 278720) 457
Lipoid proteinosis (MIM 247100) 458
Congenital Sensorineural Deafness 458
Miscellaneous Disorders/Syndromes 458
Comments 458
References 459
Chapter 15: Genetic Disorders in Morocco 462
The Country and Population 462
Genetic Services 463
Consanguinity and Genetic Diseases in Morocco 463
Chromosomal Abnormalities 463
Genetic Disorders in Morocco 464
Neurosensorial Diseases 464
Hearing Loss 464
Glaucoma 464
Retinitis Pigmentosa 465
Leber Congenital Amaurosis 465
Neuromuscular Diseases 465
Dystrophinopathies 465
Limb-Girdle Muscular Dystrophy 468
Congenital Muscular Dystrophy 469
Facioscapulohumeral Muscular Dystrophy 469
Spinal Muscular Atrophy 469
Charcot-Marie-Tooth Disease 470
Hereditary Spastic Paraplegia 470
Hematological Diseases 470
Thalassemia 470
Sickle Cell Anemia 471
Hemophilia 471
G6PD Deficiency 471
Endocrine and Metabolic Diseases 472
Congenital Adrenal Hyperplasia 472
Familial Hypercholesterolemia 472
Mucopolysaccharidosis 472
Dermatologic Diseases 473
Xeroderma Pigmentosum 473
Hypohydrotic/Anhydrotic Ectodermal Dysplasia 473
Incontinentia Pigmenti 474
Cancer Genetics 474
Breast Cancer 474
Colorectal Cancer 474
Multiple Endocrine Neoplasia Type 2 475
Familial Mediterranean Fever 475
Cystic Fibrosis 475
Infertility Associated with Multi-tailed Spermatozoa and Large Heads 476
References 476
Chapter 16: Genetic Disorders in Oman 480
The Country and Population 480
Oman History 480
Medical and Genetic Services in Oman 482
Genetic Disorders in Oman 483
Chromosomal Rearrangements 484
Single Gene Defects 484
Autosomal Recessive Diseases 484
Hemoglobinopathies 484
Inborn Errors of Metabolism 485
Neurogenetic Disorders 485
Osteodysplasias and Spondylodysplasias 487
Diseases Affecting Kidneys, Liver and Gut 487
Immunodeficiencies and Chromosomal Instability Syndromes 488
Genodermatoses 489
Diseases Affecting Vision and Hearing 489
Miscellaneous Recessive Disorders 490
Autosomal Dominant Conditions 490
X-Linked Conditions 491
Novel Phenotypes and Variants, and Novel Genotypes 491
Comment 494
References 494
Chapter 17: Genetic Disorders Among the Palestinians 498
History of Palestine 498
Consanguinity and Family Patterns 501
Genetic Markers and Polymorphism 502
Genetics Disorders Among the Palestinians 503
Chromosomal Abnormalities 503
Common Autosomal Recessive Disorders Reported Among Palestinians 503
Hemoglobinopathies 503
Familial Mediterranean Fever 505
Cystic Fibrosis 505
Phenylketonuria 506
Bardet-Biedl Syndrome 506
Meckel Syndrome 507
Lysosomal Disorders 507
Familial Hydrocephalus 507
Congenital Adrenal Hyperplasia and Male Pseudohermaphroditism 508
Genetic Disorders Causing Blindness 508
Other Apparently Common Disorders 508
Patterns of Inborn Errors of Metabolism Detected among Palestinians 509
New Disorders First Reported Among Palestinians 509
Rare Disorders 511
Cancer 511
General Observations 513
Comments 514
References 515
Chapter 18: Genetic Disorders in Qatar 522
Geography and History 522
Population of Qatar 524
Genetic Services 524
Consanguinity 525
Genetic Disorders Reported from Qatar 525
Chromosomal Disorders 525
Multifactorial Birth Defects 526
Autosomal Dominant Disorders 526
X-Linked Disorders 527
Autosomal Recessive Disorders 527
Cystic Fibrosis (CF, MIM 219700 CFTR, MIM 602421)527
Inborn Errors of Metabolism 528
Homocystinuria (CBS, MIM 236200) 528
Arterial Tortuosity Syndrome (ATS, MIM 208050) 530
Nonsyndromic Microphthalmia/Anophthalmia (MIM 251600, 610092, 6200930) 530
Teebi-Shaltout Syndrome (MIM 272950) 531
Epidermolysis Bullosa, Junctional Type (MIM226700) 531
Endocrine Disorders 532
Hemoglobinopathies 532
Miscellaneous Disorders/Syndromes 533
Comments 533
References 535
Chapter 19: Genetic Disorders in Saudi Arabia 538
Introduction 538
Health Care System and Health Indicators 539
Genetic Disorders in Saudi Arabia 540
Inherited Metabolic Diseases 541
Blood Disorders 544
Neurological Disorders 546
Malformation Syndromes 549
Endocrine Disorders 550
Rheumatological and Musculoskeletal Disorders 551
Ophthalmological Disorders 552
Other Inherited Disorders 553
Novel Syndromes 556
Polymorphisms and Common Diseases in Saudi Arabia 557
Coronary Artery Diseases (CADs) 558
Cancer 558
Diabetes Mellitus (DM) 559
Other Diseases 559
Polymorphisms in the Saudi Population 559
References 561
URLs 580
Chapter 20: Genetic Disorders in Sudan 581
The Country and Population 581
Consanguinity 582
Population Genetics 583
Genetic Disorders in Sudan 584
Genetic Susceptibility to Infectious Diseases 584
Malaria 584
Interaction Between Red Blood Cell Abnormalities and Malaria 584
Segregation and Genetic Linkage Analyses 585
Schistosomiasis 586
Leishmaniasis 588
Red Cell Genetic Disorders 589
Sickle Cell Disease 589
Thalassemia 593
Other Hemoglobinopathies 593
Glucose-6-Phosphate Dehydrogenase Deficiency 593
Disorders of Hemostasis 596
Inherited Metabolic Disorders 596
Amino Acid Disorders 596
Carbohydrate Disorders 597
Mucopolysaccharidosis 597
Metabolic Bone Disease 597
Skeletal Dysplasias 598
Endocrine Disorders 598
Disorder of the Digestive System 600
Neurogenetic Disorders 601
Birth Defects 602
NTDs 602
Neuromuscular Disorders 603
Parkinson´s Disease 604
Hereditary Ataxia 605
Cutaneous and Neurocutaneous Disorders 605
Cancer Genetics 605
New Syndromes 606
Cytogenetic Abnormalities 607
References 609
Chapter 21: Genetic Disorders in Tunisia 619
The Geography and Ethnography of Tunisia 620
Genetic Services 622
Consanguinity 622
Genetic and Congenital Disorders 623
Red Cell Genetic Disorders 623
beta-Thalassemia (OMIM 141900) 623
a-Thalassemia (OMIM 141800) 623
Sickle Cell Disease (OMIM 603903) 623
Glucose-6-Phosphate Dehydrogenase (OMIM 305900) 624
Fanconi Anemia (OMIM 227650) 624
Chromosomal Disorders 624
Down Syndrome (OMIM 190685) 624
Turner Syndrome 625
Klinefelter´s Syndrome 625
Neuromuscular and Neurodegenerative Disorders 625
Muscular Dystrophies 625
Spinal Muscular Atrophy (OMIM 253300) 626
Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency (OMIM 608931) 626
Parkinson Disease (OMIM 168600) 627
Alzheimer Disease (OMIM 104300) 627
Genetic Endocrine Disorders 628
Congenital Adrenal Hyperplasia (OMIM 201910) 628
Autoimmune Thyroid Diseases 628
Cystic Fibrosis (OMIM 219700) 629
Metabolic and Nutritional Diseases 629
Phenylketonuria (OMIM 261600) 629
Insulin-Dependent Diabetes Mellitus (OMIM 222100) 629
Noninsulin-Dependent Diabetes Mellitus (OMIM 125853) 630
Inflammatory Disorders 630
Familial Mediterranean Fever Gene (OMIM 608107) 630
Systemic Lupus Erythematosus (OMIM 152700) 630
Dermatological Disorders 631
Xeroderma Pigmentosum (XP) 631
Dystrophic Epidermolysis Bullosa (RDEB OMIM 226600 DDEB OMIM 131750)631
Deafness 632
Nonsyndromic Deafness (OMIM 220290) 632
Usher Syndrome Type IIA (OMIM 276901) 633
X-Linked Mental Retardations (OMIM 300419) 633
Hereditary Multiple Exostoses Type I (OMIM 133700) 633
Predisposition to Cancer 633
Bladder Cancer (OMIM 109800) 633
Prostate Cancer (OMIM 176807) 634
Breast Cancer (OMIM 114480) 635
Nasopharyngeal Carcinoma (OMIM 161550) 636
Colorectal Cancer (OMIM 114500) 637
Conclusion 637
References 637
Chapter 22: Genetic Disorders in the United Arab Emirates 645
The Country and Population 645
Population History 645
Current Population 646
Consanguinity 647
Genetic Services 648
Genetic Disorders in the UAE 649
beta-Thalassemia 650
Sickle Cell Disease (SCD) and Other Haemoglobinopathies 651
a-Thalassemia 652
G6PD Deficiency 652
Cystic Fibrosis (CF) (MIM 219700) 653
Deafness 653
Malformation Syndromes 654
Bardet-Biedl Syndrome (MIM 209900) 654
Cohen Syndrome (MIM 216550) 654
Donnai-Barrow Syndrome (MIM 222448) 655
Sanjad-Sakati Syndrome (MIM 241410) 655
Hennekam Syndrome (MIM 235510) 655
Fraser Syndrome (MIM 219000) 655
Mowat-Wilson Syndrome (MIM 235730) 656
Down Syndrome 656
Brain Malformation Syndromes 656
Joubert Syndrome (MIM 213300) 657
Meckel Syndrome (MIM 249000) 657
AR Microcephaly (MIM 608716) 658
Osteochondrodysplasias 658
Stuve-Wiedemann Syndrome (MIM 601559) 658
Microcephalic Osteodysplastic Primordial Dwarfism Type II (MIM 210720) 659
Fibrochondrogenesis (MIM 228520) 659
Raine syndrome (MIM 279775) 659
Dygve-Melchior-Clausen Syndrome (MIM 304950) 659
Ellis-van-Creveld (MIM 225500) and Jeune Syndromes (MIM 208500) 660
Larsen (MIM245600) and Desbuquois (MIM 251450) Syndromes 660
Acromesomelic Dysplasia 660
Limb/Pelvis/Hypoplasia/Aplasia Syndrome (MIM 276820) 661
Wollcott-Rallison Syndrome (MIM 226980) 661
Miscellaneous Bone Dysplasias 661
Neurometabolic Disorders 661
Genodermatosis 662
Ehlers-Danlos Syndrome VIA (EDSVIA) (MIM 225400) 662
Epidermolysis Bullosa 663
Atopic Dermatitis 664
Congenital Ichthyosis and Related Conditions 664
Waardenburg-Shah Syndrome (MIM 277580) 664
Erythrokeratodermia Variabilis (MIM 133200) 665
Mal de Meleda Disease (MIM 248300) 665
Restrictive dermatopathy (MIM 275210) 665
X-Linked Dyskeratosis Congenita (MIM 305000) 666
Neuromuscular Disorders 666
Spinal Muscular Atrophy, Type I (MIM 253300) 666
Muscular Dystrophy, Congenital, 1B (MIM 604801) 666
Myotonic Dystrophy 1 (MIM 160900) 667
Neurogenetic Disorders Other than Neurodegenerative Disorders 667
Congenital Insensitivity to Pain 667
AR Spastic Paraplegia with Thin Corpus Callosum 668
Crisponi Syndrome (MIM 601378) 668
Progeriod Syndromes 668
Generalized Lipodystrophy of Seip (MIM 269700) 669
Neonatal Progeria (Wiedemann-Rautenstrauch Syndrome) (MIM 264090) 669
SHORT Syndrome (MIM 269880) 669
Gerodermia Osteodysplastica (GO) (MIM 231070) 670
Leprechaunism and Leprechaunism-like Syndromes (MIM 246200) 670
Setleis Syndrome (MIM 227260) 670
Genetic Disorders of the Kidneys 670
Genetic Disorders of the Eyes 671
Miscellaneous Genetic Disorders 672
Future Directions 675
References 675
Chapter 23: Genetic Disorders Among Jews from Arab Countries 683
History of Jews from Arab Countries 683
Pan Ethnic Diseases 684
Familial Mediterranean Fever (FMF, MIM 249100) 684
Cystic Fibrosis (CF, MIM 219700) 684
Fragile X (MIM 309550) 685
Non syndromic Deafness (MIM 121011) 685
Spinal Muscular Atrophy (SMA, MIM 253300) 686
Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD, MIM 305900) 686
Thalassemias (MIM 141800, 141850, 141900) 686
Alpha Thalassemia (MIM 141800, 141850) 686
beta-Thalassemia (MIM 141900) 687
Usher Syndrome Type IIA (USH2A MIM 276901) 687
Iraq, Kurdistan and Iran 688
Beta-Thalassemia (MIM, 141900) and G6PD Deficiency (MIM 305900) 688
Factor XI Deficiency (PTA, MIM 264900) 688
Glanzmann´s Thrombasthenia (MIM 273800) 689
Familial Mediterranean Fever (FMF, MIM 249100) 689
Costeff Optic Atrophy Syndrome (MIM 258501) 689
Pituitary Dwarfism II (Laron type, MIM 262500) 690
Cystic Fibrosis (CF, MIM 219700) 690
Hereditary Breast-Ovarian Cancer (MIM 113705, 600185) 690
Congenital Myasthenia Syndrome (CMS, MIM 608931) 690
Corticosterone Methyloxydase Deficiency Type II (CMO-II, MIM 610600) 691
Dubin-Johnson Syndrome (DJS, MIM 237500) 691
Factor VII Deficiency (FVII, MIM 227500) 692
Achromatopsia II (MIM 216900) 692
Colobomatous Microphthalmia (MIM 610092) 692
Polyglandular Syndrome (PGA I, MIM 240300) 693
Inclusion Body Myopathy 2 (IBM2, MIM 600737) 693
The Near East 693
Yemen 693
Thalassemia (HBA2, MIM 141850) 694
Phenylketonuria (PKU, MIM 261600) 694
Metachromatic Leukodystrophy (MLD, MIM 250100) 694
Chronic Familial Neutropenia (Benign FL, MIM 162700) 695
Peroxidase and Phospholipid Deficiency in Eosinophils (MIM 261500) 695
Hereditary Breast-Ovarian Cancer (MIM 113705, 600185) 695
Myotonic Dystrophy I (MIM 160900) 695
Retinitis Pigmentosa (RP, MIM 608381) 696
Cystic Fibrosis (CF, MIM 219700) 696
Rare Diseases 697
North African Jews 697
Familial Mediterranean Fever (FMF, MIM 249100) 697
Glycogen Storage Disease III (GSD, MIM 232400) 697
Libya 698
Creutzfeldt-Jakob Disease (CJD, MIM 123400) 698
Cystinuria (MIM 220100) 698
Muscular Dystrophy Type 2B (Limb-Girdle MD (LGMD), MIM 253601) 699
Cystic Fibrosis (CF, MIM 219700) 699
Tunisia 699
Phenylketonuria (PKU, MIM 261600) and Hyperphenylalaninemia (MIM 612349) 699
Brittle Cornea Syndrome (BCS, MIM 229200) 700
Cystic Fibrosis (CF, MIM 219700) 700
Algeria 700
Morocco 700
Oculocutaneous Albinism (MIM 203100) 700
Ataxia Telangiectasia (AT, MIM 208900) 701
Tay Sachs (TSD, MIM 272800) 701
Adrenal Hyperplasia IV (MIM 202010) 701
Fanconi Anemia A (MIM 607139) 702
Phenylketonuria and Hyperphenylalaninemia (MIM 612349) 702
Cerebrotendinous Xanthomatosis (CTX, MIM 213700) 702
Dubin-Johnson Syndrome (DJS, MIM 237500) 703
Factor VII Deficiency (FVII, MIM 227500) 703
Muscular Dystrophy I (MIM 253600) 703
Concluding Remarks 704
References 704
Part V: Cultural and Religious AttitudesTowards Genetic Issues 709
24: Prevention and Care of Genetic Disorders: An Islamic Perspective 710
Islam and Ethics 710
Impact of Genetic Diseases on the Muslim Population 712
Genetics Counseling 712
Medical Genetics and Genomics in Developing Countries 714
Genomic Research and Islam 715
Population Genetic Screening Programs and Islamic Ethics 716
Primary Prevention Strategies 717
Control of Teratogens 717
Premarital or Prepregnancy Genetic Screening 717
Secondary Prevention Strategies 718
Prevention Based on Reproductive Options 719
Contraception and Sterilization 719
Adoption 719
Donation of a Sperm, Ovum, or Preembryo, or Motherhood Surrogacy 720
Preimplantation Diagnosis 720
Ethically Difficult Indications 720
Prenatal Diagnosis 722
Cloning and Stem Cell Research 722
Cord Blood Transplantation 723
Somatic Gene Therapy 724
Conclusions 725
References 726
Chapter 25: Genetic Counseling in the Middle East 729
What is Genetic Counseling? 729
Development of the Genetic Counseling Profession 730
The Genetic Counseling Profession in the Middle East 731
Islam and Genetic Counseling 732
Assisted Reproduction 733
Termination of Pregnancy 733
Teratogens 735
Adoption 735
Contraception and Sterilization 736
Cloning 736
Premarital Screening 736
Impact of Faith on the Individual 737
Cultural Issues 738
Consanguinity 738
Clinical Photography 740
Illness and Visitation of the Ill 741
Additional Cultural Beliefs Impacting Health Care 742
References 743
Index 745