Arab genetic disease database (AGDDB): A population-specific clinical and mutation database

Teebi, Ahmad S.; Teebi, Saeed A.; Porter, Christopher J.; Cuticchia, Anthony

doi:10.1002/humu.10082

Cited by 29 publications

(20 citation statements)

References 12 publications

(9 reference statements)

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“…The Arabs do not usually prohibit marriages with relatives, and consanguinity rates range between 20 and 60% (Teebi et al 2002). Moreover, families have an average of 5.3 children in Egypt.…”

Section: Introductionmentioning

confidence: 99%

Molecular characterization of Egyptian patients with glycogen storage disease type IIIa

Endo¹,

Fateen

Aoyama³

et al. 2005

J Hum Genet

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Glycogen storage disease type IIIa (GSD IIIa) is an autosomal recessive disorder characterized by excessive accumulation of abnormal glycogen in the liver and muscles and caused by a deficiency in the glycogen debranching enzyme. The spectrum of AGL mutations in GSD IIIa patients depends on ethnic group-prevalent mutations have been reported in the North African Jewish population and in an isolate such as the Faroe islands, because of the founder effect, whereas heterogeneous mutations are responsible for the pathogenesis in Japanese patients. To shed light on molecular characteristics in Egypt, where high rate of consanguinity and large family size increase the frequency of recessive genetic diseases, we have examined three unrelated patients from the same area in Egypt. We identified three different individual AGL mutations; of these, two are novel deletions [4-bp deletion (750-753delAGAC) and 1-bp deletion (2673delT)] and one the nonsense mutation (W1327X) previously reported. All are predicted to lead to premature termination, which completely abolishes enzyme activity. Three consanguineous patients are homozygotes for their individual mutations. Haplotype analysis of mutant AGL alleles showed that each mutation was located on a different haplotype. Our results indicate the allelic heterogeneity of the AGL mutation in Egypt. This is the first report of AGL mutations in the Egyptian population.

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Section: Introductionmentioning

confidence: 99%

Molecular characterization of Egyptian patients with glycogen storage disease type IIIa

Endo¹,

Fateen

Aoyama³

et al. 2005

J Hum Genet

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“…The Arab Genetic Disease Database (AGDDB) is a curated catalogue of genetic disorders found in Arab populations that was established in 2001 [4] by a group in Toronto, headed by Dr. A.S. Teebi. AGDDB contains information on the clinical, genomic, protein, population and reference aspects of Arab disorders (published and otherwise), along with extensive links to entries in OMIM, PubMed and other databases.…”

Section: Arab Genetic Disease Databasementioning

confidence: 99%

Genetic Diversity among the Arabs

Teebi

2005

Public Health Genomics

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The Arabs in general are genetically diverse. Major factors that contributed to their diversity include the migrations of Semitic tribes from the Arabian Peninsula, the Islamic expansion in the 7th century AD, the Crusade wars and the recent migration dynamics. These events have resulted in the admixture of the original Arabs with other populations extending from east and south Asia to Europe and Africa. Their demographic features include high rates of consanguinity, a large family size and a rapid population growth. There is a high frequency of autosomal recessive disorders and increased frequencies of homozygosity for autosomal dominant traits, such as familial hypercholesterolemia and X-linked traits, such as glucose-6-phosphate dehydrogenase deficiency. The patterns of autosomal recessive disorders, including their mutations, may be different in various geographic locations within the Arab world. However, there are disorders that are specifically prevalent among the Arabs either uniformly or in certain locations. The Arab Genetic diseases include Bardet-Biedl syndrome, Meckel syndrome, autosomal recessive severe childhood muscular dystrophy, osteopetrosis and renal tubular acidosis, Sanjad-Sakati syndrome and others.

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“…The Arab Genetic Disease Database (AGDDB) served as a robust prototype for cataloging variation and disorder information within Arab populations [74], and health care providers in Arab communities can now access information on relevant genetic disorders from online websites such as the Catalogue of Transmission Genetics in Arabs (CTGA), maintained by the UAE-based Centre for Arab Genomic Studies (CAGS) [75]. The basic and advanced web-based search approaches offered by CAGS are becoming essential tools in promoting research on genetic disorders in Arab countries [76].…”

Section: Genetic Education Within the Health Sector And The General Pmentioning

confidence: 99%

Genetic Clinics in Arab Communities: Meeting Individual, Family and Community Needs

Hamamy¹,

Bittles

2008

Public Health Genomics

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Arab societies are characterized by a wide range of family and social structures, religious and legal conventions, and highly variable economic resources. As might be expected under these circumstances, genetic services cannot readily be devised, delivered, and assessed according to a single model. However, in general terms, the provision of genetic services in Arab communities at all population levels is still inadequate given the prevalence and burden of genetic diseases. Improving this situation calls for major educational efforts that include increasing the genetic literacy of the general public, comprehensive courses and campaigns to familiarize primary health care workers with counseling needs and skills and with referral guidelines for high-risk families, updating medical, nursing, and paramedical curricula to incorporate information on community genetics, and training clinical and laboratory genetic specialists to meet the short- and long-term goals of genetic disease prevention and management.

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Arab genetic disease database (AGDDB): A population-specific clinical and mutation database

Cited by 29 publications

References 12 publications

Molecular characterization of Egyptian patients with glycogen storage disease type IIIa

Molecular characterization of Egyptian patients with glycogen storage disease type IIIa

Genetic Diversity among the Arabs

Genetic Clinics in Arab Communities: Meeting Individual, Family and Community Needs

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