AB140. Ten years experiences of diagnosis spinal muscular atrophy using molecular techniques

BACKGROUND AND OBJECTIVE: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron gene (SMN). This article aims to identify the deletion exon 7 of SMN1/SMN2 genes in postnatal diagnosis and prenatal diagnosis with spinal muscular atrophy. METHODS: A total of 1,111 patients suspected SMA and 66 pregnant women who had affected children were collected from 2005 to 2015. The deletion of exon 7 SMN1/SMN2 genes was identified by PCR-restriction fragment length polymorphism (RFLP) techniques. RESULTS: We identified a homozygous deletion exon 7 of SMN1 in 353/1,111 (31.77%); 55/1,111 (4.95%) patients had deletion exon 7 of SMN-2 gene. In 66 pregnant women, there is 14/67 (20.9%) fetuses had deletion exon 7 of SMN-1 gene; 2/67 (2.98%) fetuses had deletion exon 7 of SMN-2 gene and 51/67 (76.12%) fetuses had no deletion. CONCLUSIONS: Using molecular techniques to detect the deletion exon 7 of SMN1 gene is useful for postnatal and prenatal diagnosis with SMA.