Spinal muscular atrophy (SMA) is a type of autosomal recessive genetic disease, which seriously threatens the health and lives of children and adolescents. We attempted to find some genes and mutations related to the onset of SMA. Eighty-three whole-blood samples were collected from 28 core families, including 28 probands with clinically suspected SMA (20 SMA patients, 5 non-SMA children, and 3 patients with unknown etiology) and their parents. The multiplex ligation probe amplification (MLPA) was performed for preliminary diagnosis. The high-throughput sequencing technology was used to conduct the whole-exome sequencing analysis. We analyzed the mutations in adjacent genes of SMN1 gene and the unique mutations that only occurred in SMA patients. According to the MLPA results, 20 probands were regarded as experimental group and 5 non-SMA children as control group. A total of 10 mutations were identified in the adjacent genes of SMN1 gene. GUSBP1 g.[69515863G>A], GUSBP1 g.[69515870C>T], and SMA4 g.[69515738C>A] were the top three most frequent sites. SMA4 g.[69515726A>G] and OCLN c.[818G>T] have not been reported in the existing relevant researches. Seventeen point mutations in the DYNC1H1 gene were only recognized in SMA children, and the top two most common mutations were c.[2869-34A>T] and c.[345-89A>G]; c.[7473+105C>T] was the splicing mutation that might change the mRNA splicing site. The mutations of SMA4 g.[69515726A>G], OCLN c.[818G>T], DYNC1H1 c.[2869-34A>T], DYNC1H1 c.[345-89A>G], and DYNC1H1 c.[7473+105C>T] in the adjacent genes of SMN1 gene and other genes might be related to the onset of SMA.

脊髓性肌萎缩症（SMA）是一种常染色体隐性遗传疾病，严重威胁着儿童和青少年的健康和生命。我们试图找到一些与SMA发病有关的基因和突变。从28个核心家庭中收集了83个全血样本，包括28个临床上怀疑患有SMA的先证者（20例SMA患者，5例非SMA儿童和3例病因不明的患者）及其父母。进行多重连接探针扩增（MLPA）以进行初步诊断。高通量测序技术用于进行全外显子组测序分析。我们分析了SMN1相邻基因的突变基因和仅在SMA患者中发生的独特突变。根据MLPA结果，将20名先证者作为实验组，将5名非SMA儿童作为对照组。在SMN1基因的相邻基因中共鉴定出10个突变。GUSBP1 g。[69515863G> A]，GUSBP1 g。[69515870C> T]和SMA4 g。[69515738C> A]是最常见的三个站点。现有相关研究尚未报道SMA4 g。[69515726A> G]和OCLN c。[818G> T]。DYNC1H1中的十七个点突变该基因仅在SMA患儿中被识别，最常见的两个突变是c。[2869-34A> T]和c。[345-89A> G]；c。[7473 + 105C> T]是可能会改变mRNA剪接位点的剪接突变。的突变SMA4克。[69515726A> G]，OCLN。C [818G> T]，DYNC1H1 ℃。[2869-34A> T]，DYNC1H1 ℃。[345-89A> G]，和DYNC1H1 ℃。[7473+ SMN1基因与其他基因相邻基因的105C> T]可能与SMA的发生有关。