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Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study.

Faisal IbrahimDinesh VelayuthamMohamed AlsharshaniUsama AlAlamiManar AlDewikTala AbuarjaHilal Al RifaiNader Al Dewik
Published in: Molecular genetics & genomic medicine (2023)
The SMA carrier frequency in Qatar was found to be comparable to Saudi Arabia and Caucasians. The likely pathogenic variant, rs121909192, was found to be significantly higher when compering with other in our study. The rs143838139 variant, which has a strong association with the silent carrier genotype, has been found. Consequently, testing for this SNP may enhance the precision of evaluating the likelihood of a patient having an affected child. We conclude that the frequency of SMA carriers varies within the Qatar population and other ethnic groups.
Keyphrases
  • saudi arabia
  • mental health
  • case report
  • genome wide