title: Canavan disease: an Arab scenario.
abstract: The autosomal recessive Canavan disease (CD) is a neurological disorder that begins in infancy. CD is caused by mutations in the gene encoding the ASPA enzyme. It has been reported with high frequency in patients with Jewish ancestry, and with low frequency in non-Jewish patients. This review will shed light on some updates regarding CD prevalence and causative mutations across the Arab World. CD was reported in several Arab countries such as Saudi Arabia, Egypt, Jordan, Yemen, Kuwait, and Tunisia. The population with the highest risk is in Saudi Arabia due the prevalent consanguineous marriage culture. In several studies, four novel mutations were found among Arabian CD patients, including two missense mutations (p.C152R, p.C152W), a 3346bp deletion leading to the removal of exon 3 of the ASPA gene, and an insertion mutation (698insC). Other previously reported mutations, which led to damage in the ASPA enzyme activities found among CD Arab patients are c.530 T>C (p.I177T), c.79G>A (p.G27R), IVS4+1G>T, and a 92kb deletion, which is 7.16kb upstream from the ASPA start site. This review will help in developing customized molecular diagnostic approaches and promoting CD carrier screening in the Arab world in areas where consanguineous marriage is common particularly within Saudi Arabia.
authors: Department of Health Sciences, Biomedical Program, Qatar University, Doha, Qatar. Electronic address: hatem.zayed@qu.edu.qa.
authors: Hatem
authors: H
authors: Zayed
mesh_terms: D000581:Amidohydrolases / Q000235:genetics; D000818:Animals; D018643:Arab World; D018912:Arabs / Q000235:genetics; D017825:Canavan Disease / Q000175:diagnosis / Q000208:ethnology* / Q000235:genetics / Q000473:pathology; D004534:Egypt / Q000453:epidemiology; D005006:Ethnicity / Q000235:genetics; D056726:Genetic Association Studies; D005820:Genetic Testing / Q000639:trends; D006801:Humans; D008877:Middle East / Q000453:epidemiology; D009018:Morocco / Q000453:epidemiology; D014416:Tunisia / Q000453:epidemiology
chemical_list: D000581:Amidohydrolases; C019751:aspartoacylase
keywords: Arab countries; Canavan disease; Epidemiology; Genotype–phenotype correlation; Mutations