Canavan disease: an Arab scenario.

Area of Science:

• Genetics
• Neurology
• Molecular Biology

Background:

• Canavan disease (CD) is an autosomal recessive neurological disorder affecting infants, caused by mutations in the ASPA gene.
• CD is more prevalent in individuals of Jewish ancestry but also occurs in other populations, including those in the Arab World.

Purpose of the Study:

• To review current data on the prevalence and specific mutations of Canavan disease in the Arab World.
• To identify genetic variations and risk factors contributing to CD in this region.

Main Methods:

• Literature review of studies on Canavan disease in the Arab World.
• Analysis of reported prevalence data and identified causative mutations in affected populations.

Main Results:

• Canavan disease has been reported in Saudi Arabia, Egypt, Jordan, Yemen, Kuwait, and Tunisia.
• Saudi Arabia shows the highest risk due to consanguineous marriage practices.
• Four novel mutations (p.C152R, p.C152W, 3346bp deletion, 698insC) and previously identified mutations (c.530 T>C, c.79G>A, IVS4+1G>T, 92kb deletion) were found in Arab CD patients.

Conclusions:

• The findings underscore the need for tailored molecular diagnostic strategies for Canavan disease in the Arab world.
• Promoting carrier screening is crucial, especially in regions with high rates of consanguineous marriage like Saudi Arabia.