The Genetic Landscape of Pompe Disease in the Middle East, North Africa, and Turkey (MENAT Region): A Systematic Review of GAA Variants and Genotype-Phenotype Correlation.

What was studied

This review looked at gene changes behind Pompe disease. It covered the Middle East, North Africa and Turkey. Pompe disease is rare and inherited. It is caused by changes in the GAA gene. It ranges from severe infant-onset disease to slowly growing late-onset disease. The team searched several databases. They covered 24 studies with 134 patients.

What they found

The team found 61 distinct GAA variants. Some were unique to the region. The most common type was missense variants. Egypt gave the most patients, 24 of 134. The most common variant was a leaky splice-site variant, c.-32-13T>G. It appeared in patients from Turkey, Algeria, Iran and Egypt. 35 variants went with infant-onset disease and 24 with late-onset disease. Some variants appeared with both forms.

What it means for patients

The authors say the region has country-specific variants. They say these differ from variants reported elsewhere in the world.

Why it is not certain yet

The review covered 134 patients. The authors say larger studies are needed to understand gene-trait links in this region. Pompe disease is rare. A review can only be as good as the studies in it. The abstract does not rate the quality of the studies.

Source

The Genetic Landscape of Pompe Disease in the Middle East, North Africa, and Turkey (MENAT Region): A Systematic Review of GAA Variants and Genotype-Phenotype Correlation.

We restate facts from the source record in our own words. The original wording belongs to its publisher.