Gaucher disease (GD) is an inherited autosomal recessive lysosomal storage disease resulting from biallelic mutations in the Glucocerebrosidase gene located on chromosome 1q21. The sub-acute neuronopathic form, Gaucher disease type 3c, is commonly identified in the Arab population and associated with cardiac manifestations. It is uniquely linked to homozygosity for the D409H gene mutation in all identified mutated alleles. Despite being a commonly identified Gaucher genotype in the region, few reports of D409H mutation have been reported in the Middle East. Nevertheless, the increased rate of consanguinity among Arabs, ranging from 10% to 70%, contributes to a high rate of genetic diseases, including GD. However, with its associated gene mutation, GD, D409H, remains an area for further exploration in the Gulf area.
Key words: Gaucher disease, D409H, acid β-glucosidase gene, gene mutation, Gulf region
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