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Genetic Disorders Among Arab Populations
Ahmad S. Teebi
Verlag Springer-Verlag, 2010
ISBN 9783642050800 , 772 Seiten
2. Auflage
Format PDF, OL
Kopierschutz Wasserzeichen
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);1417.1.5
Hyperimmunoglobulinemia D with Periodic Fever Syndrome (Hyper-IgD) HIDS, MIM 260920)144
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