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Consanguinity and dysmorphology in Arabs.

Lihadh Al-Gazali1, Hanan Hamamy

  • 1Department of Pediatrics, College of Medicine and Health Sciences, UAE University, Al Ain, United Arab Emirates.

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|July 26, 2014
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Consanguineous marriages are common in Arab countries, leading to a high incidence of autosomal recessive (AR) congenital disorders. Further research and DNA diagnostics are crucial for understanding and managing these genetic conditions.

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Area of Science:

  • Medical Genetics
  • Human Genetics
  • Population Genetics

Background:

  • Arab populations exhibit unique demographic and cultural traits, including early marriage and large families.
  • Consanguineous marriage is prevalent, accounting for 20-50% of unions, with first-cousin marriages being particularly common.
  • This high rate of consanguinity significantly influences the incidence of genetic disorders, especially autosomal recessive (AR) syndromes.

Purpose of the Study:

  • To discuss the impact of consanguinity on congenital disorders in Arab countries.
  • To highlight the contribution of Arab geneticists to identifying new AR syndromes and genes.
  • To emphasize the need for further research and diagnostic capabilities in the region.

Main Methods:

  • Review of existing literature on consanguinity and genetic disorders in Arab populations.
  • Analysis of data on the prevalence of different types of marriages and their association with birth defects.
  • Discussion of collaborative research efforts and their outcomes.

Main Results:

  • Autosomal recessive (AR) dysmorphic syndromes represent a substantial portion of birth defects in Arab populations due to high consanguinity rates.
  • Arab geneticists have identified novel genes and described new AR syndromes, often in collaboration with international researchers.
  • A significant number of rare dysmorphic syndromes with undefined molecular pathologies may still exist among Arab populations.

Conclusions:

  • Consanguinity is a major driver of genetic disorders in Arab countries, necessitating targeted research and genetic screening.
  • There is a need to enhance DNA diagnostic services and build local research capacity to address region-specific genetic health priorities.
  • Characterizing prevalent genetic disorders and their mutations is essential for developing effective screening and testing protocols.