Frequency of SMN1 exon 7 deletion in patients with spinal muscular atrophy in Kashmir

There is a significant association of SMN1 homozygous exon 7 deletion and the occurance of SMA as compared to healthy controls. Although the frequency of SMN1 homozygous deletion in Kashmiri population is lower than the rest of the countries but we conclude the presence of exon 7 deletion in clinically suspected SMA patient should be treated as confirmation of diagnosis and therefore this test can be used as one of the useful tool for SMA diagnosis.