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Background  Spinal muscular atrophy (SMA) is caused by  SMN1  dysfunction, and the copy number of  SMN2  and  NAIP  can modify the phenotype of SMA. The aim of this study was to analyze the copy numbers and gene structures of SMA-related genes in Chinese SMA patients and unrelated healthy controls.    Methods  Forty-two Chinese SMA patients and two hundred and twelve unrelated healthy Chinese individuals were enrolled in our study. The copy numbers and gene structures of SMA-related genes were measured by MLPA assay.    Results  We identified a homozygous deletion of  SMN1  in exons 7 and 8 in 37 of 42 patients (88.1%); the other 5 SMA patients (11.9%) had a single copy of  SMN1  exon 8. The proportions of the 212 unrelated healthy controls with different copy numbers for the normal  SMN1  gene were 1 copy in 4 individuals (1.9%), 2 copies in 203 (95.7%) and 3 copies in 5 (2.4%). Three hybrid  SMN  genes and five genes that lack partial sequences were found in SMA patients and healthy controls. Distributions of copy numbers for normal  SMN2  and  NAIP  were significantly different ( P  < 0.001) in people with and without SMA.    Conclusion  The copy numbers and gene structures of SMA-related genes were different in Chinese SMA patients and healthy controls.

Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls