Identification of a Novel SMN1 Gene Variant in Chinese Spinal Muscular Atrophy Patients

Spinal muscular atrophy (SMA) is primarily caused by SMN1 gene mutations. Two SMA cases lacking typical SMN1 gene deletions or mutations were studied. Through innovative techniques, including MLPA and long-range PCR, a novel deletion in exon 1 of SMN1 was identified in both cases. This discovery suggests a new mutation hotspot in Chinese SMA patients, expanding our understanding of SMN1 gene variations and aiding in more efficient SMA diagnosis. The optimised workflow provides valuable insight for single exon CNV testing of the SMN gene.