%0 Journal Article
%T Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy
%A Fang Song
%A Hong Wang
%A Jin-li Bai
%A Juan Du
%A Sheng-xi He
%A Wen-hui Zhang
%A Xiu-shan Ge
%A Yan Li
%A Yan-yan Cao
%A Yu-jin Qu
%A Yu-wei Jin
%J The Journal of Molecular Diagnostics
%D 2016
%R 10.1016/j.jmoldx.2016.05.004
%X Proximal spinal muscular atrophy (SMA) is a common fatal autosomal recessive disorder
caused by deletion or mutation of the survival of motor neuron 1 (SMN1). Here, we
studied SMA molecular pathology in 653 Chinese patients and found approximately 88.2%
with homozygous SMN1 exon 7 deletion and 6.3% with heterozygous exon 7 loss using
multiplex ligation-dependent probe amplification. SMN1 variants were detected in 34
patients with heterozygous SMN1 loss by clone sequencing. In 27 of them, 15 variants
were identified: five were unreported novel variants [c.-7_9del(p.0), p.Tyr109Cys,
p.Ile249Tyrfs*16, p.Tyr272Trpfs*35, and c.835-5T>G], five were previously found only
in Chinese patients (p.Ser8Lysfs*23, p.Gln14*, p.Val19Glyfs*21, p.Leu228*, and p.Tyr277Cys),
and five were reported in other populations [p.Ala2Gly, p.Gln15*, p.Glu134Lys, p.Ser230Leu,
and c.863G>T (r.835_*3del, p.Gly279Glufs*5)].
%U https://jmd.amjpathol.org/article/S1525-1578(16)30084-8/fulltext