Birth prevalence and pattern of osteochondrodysplasias in an inbred high risk population

Al‐Gazali, Lihadh; Bakır, M; Hamid, Zuhair; Várady, E; Varghes, Mani; Haas, D.; Bener, Abdulbari; Padmanabhan, R.; Abdulrrazzzaq, Yeusef M.; Dawodu, A

doi:10.1002/bdra.10009

Cited by 41 publications

(39 citation statements)

References 27 publications

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“…In 2005, Rajab et al [60] estimated its prevalence in Oman to be 1 in 25,000 births. A similar figure was obtained from the UAE: 0.52 in 10,000 births (= 1.3 in 25,000) [77] . Five children with this syndrome from 4 families in the UAE have been studied at the clinical and molecular level.…”

Section: Ellis-van-creveld Syndromesupporting

confidence: 64%

Consanguinity and Dysmorphology in Arabs

Al‐Gazali

Hamamy²

2014

Hum Hered

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Incidence rates of congenital disorders among the 350 million inhabitants of Arab countries could be influenced via the people's demographic and cultural characteristics. Arabs usually marry at a young age and have large families. They share certain core cultural values and beliefs, with the family accepted as the central structure of society. Consanguineous marriage is favored and respected in most if not all Arab communities, and intrafamilial unions currently account for 20-50% of all marriages. First-cousin unions are especially popular and constitute almost one quarter of all marriages in many Arab countries. Consequently, autosomal recessive (AR) dysmorphic syndromes constitute a considerable proportion of all birth defects among Arabs. Arab geneticists, with their persistent commitment to advancing research, have contributed to the description of a number of rare and new AR syndromes with the identification of novel genes. The collaboration with research teams in high-income countries resulted in a plethora of data on pathogenic variants and their function in causing dysmorphic syndromes. There could still be a considerable number of rare dysmorphic syndromes that prevail among Arabs which are not hitherto described and whose underlying molecular pathologies are not yet defined. Arab countries should thus strive to deploy DNA diagnostics and to build research capability around local priorities. Furthermore, a characterization of the prevailing genetic disorders in each geographic location, together with their mutations, is needed to plan for appropriate screening and testing protocols. An overview of consanguinity in Arab countries and examples of dysmorphology syndromes associated with consanguinity with their available molecular bases will be discussed.

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Section: Ellis-van-creveld Syndromesupporting

confidence: 64%

Consanguinity and Dysmorphology in Arabs

Al‐Gazali

Hamamy²

2014

Hum Hered

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“…A study of 38,084 births in Al Ain Medical District found 36 cases of skeletal dysplasias indicating a prevalence rate of 9.46 per 10,000 births [Al-Gazali et al, 2003a]. Autosomal recessive types were the most common, being responsible for almost half of those cases (4.7 per 10,000 births).…”

Section: Skeletal Dysplasiasmentioning

confidence: 99%

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE)

Al‐Gazali

Ali

2010

Hum. Mutat.

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“…These include spondyloepiphyseal dysplasia congenita and tarda, spondylocostal dysplasia, pseudorheumatoid arthropathy, Wolcott-Rallison syndrome, fi brochondrogenesis and other lethal chondrodystrophies, and a number of unique forms of bone dysplasias [1,8,14] . The Stüve-Wiedemann syndrome has been found to be prevalent in the UAE [15] while the Dyggve-Melchior-Clausen disease is suggested to have a high frequency in the Lebanese and Palestinians.…”

Section: Chondrodystrophiesmentioning

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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Birth prevalence and pattern of osteochondrodysplasias in an inbred high risk population

Abstract: This prospective study has identified a high birth prevalence of skeletal dysplasia, and risk factors are postulated. These findings represent an accurate birthprevalence figure and a useful baseline for this group of birth defects in the UAE.

Cited by 41 publications

References 27 publications

Consanguinity and Dysmorphology in Arabs

Consanguinity and Dysmorphology in Arabs

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE)

Genetic Diversity among the Arabs

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