Map of autosomal recessive genetic disorders in Saudi Arabia: Concepts and future directions

Abstract

Saudi Arabia has a population of 27.1 million. Prevalence of many autosomal recessive disorders is higher than in other known populations. This is attributable to the high rate of consanguineous marriages (56%), the tribal structure, and large family size. Founder mutations have been recognized in many autosomal recessive disorders, many of which are overrepresented within certain tribes. On the other hand, allelic heterogeneity is also observed among common and rare autosomal recessive conditions. With the adoption of more advanced molecular techniques in the country in recent years in conjunction with international collaboration, the mapping of various autosomal recessive disorders has increased dramatically. Different genetic concepts pertinent to this highly inbred population are discussed here. Addressing such genetic disorders at the national level will become a cornerstone of strategic health care initiatives in the 21st century. Current efforts are hampered by many socio-cultural and health care related factors. Education about genetic diseases, establishment of a "national registry" and mutational database, and enhanced healthcare access are crucial for success of any preventative campaign.

Whole exome sequencing of a consanguineous family identifies the possible modifying effect of a globally rare AK5 allelic variant in celiac disease development among Saudi patients

“…Though they have identified multiple rare coding region variants, none was found to be a causal mutation. Consanguineous celiac families in Saudi Arabia present a potential opportunity to identify rare genetic mutations owing to their large family size and tribal culture [20]. …”

“…In this context, whole exome sequencing presented us with an opportunity to examine a consanguineous family to reveal the causal mutation for Celiac disease. Saudi Arabia, being the global epicenter of the consanguinity (>56% of all marriages are between 1 st cousins), has a higher incidence of newborns with autosomal recessive disorders [20]. Despite the increasing prevalence, genetic investigations carried out on Saudi CD patients are few [21].…”

Is consanguinity prevalence decreasing in Saudis?: A study in two generations

“…Studies in the Saudi population have shown that autosomal recessive and other major genetic disorders (58,61), inflammatory bowel disease (59), familial multiple sclerosis (60), bronchial asthma (62), congenital heart disease (63,67), hearing impairment (64), spina bifida (65), several problems of pregnancy (57,66) and schizophrenia (67), occur at a higher prevalence in consanguineous mating. These finding and others stress the need for decrease in the rate of consanguineous marriages in the Saudi population.…”

Clinical, Endocrine, and Molecular Genetic Analysis of a Large Cohort of Saudi Arabian Patients with Laron Syndrome

“…The prevalence of many autosomal recessive disorders in Saudi Arabia is higher than in other known populations, which is attributable to the high rate of consanguineous marriages (56%), the tribal structure, and large family size [11]. Herein, we describe the molecular defects of a large cohort of patients with LS from Saudi Arabia.…”