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首页> 外文期刊>Journal of genetics >A novel missense mutation (c.1006CT) of SPG20 gene associated with Troyer syndrome
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A novel missense mutation (c.1006CT) of SPG20 gene associated with Troyer syndrome

机译：与特罗门综合征相关的SPG20基因的一种新型畸形突变（C.1006C> T）

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The number of gene mutations involved in the hereditary spastic paraplegias is rapidly growing due to the expansion of the frontiers of genomic research by next-generation DNA sequencing platforms. Nevertheless, a comprehensive genetic diagnosis method remains yet unavailable for these diseases. In the current research, an 8-year-old boy with short stature and developmental delay impairment, from a nonconsanguineous family, was referred to our genetic lab. Firstly, based on the physician recommendation, the patient was evaluated by tandem mass spectrometry (MS/MS) for the quantitative examination of amino acids, and then the patient was genetically investigated by karyotype analysis and whole-exome sequencing (WES) technique. Subsequently, targeted Sanger sequencing was applied to confirm the presence of the candidate variant in all the members of the family and screening the other patients for Troyer syndrome. Analysis of inherited metabolic disorders by tandem MS/MS showed the state of all the family members as normal and also karyotyping indicated no chromosomal aberration in the patient. Further investigation by WES technique indicated a homozygous missense variant in the SPG20 gene, c.1006C[T. Targeted sequencing result of the mutation confirmed homozygote state for the affected case and a heterozygote genotype for his parents. The mutation was classified as pathogenic. Detection of novel variants especially pathogenic variantin the SPG20 gene was associated with Troyer syndrome, which encodes a multifunctional protein termed Spartin, assist in improving genotypea??phenotype correlation of genetic variants and may facilitate initial diagnosis of Troyer syndrome.
机译：由于下一代DNA测序平台的基因组研究前沿的扩展，遗传痉挛截瘫患者的基因突变数量迅速增长。尽管如此，这些疾病仍然是综合的遗传诊断方法仍然不可用。在目前的研究中，一个8岁的男孩，具有矮小的身材和发育延误障碍，来自非通用家庭，被引用给我们的遗传实验室。首先，基于医生推荐，通过串联质谱（MS / MS）评估患者进行氨基酸的定量检查，然后通过核型分析和全外壳测序（WES）技术进行遗传研究。随后，应用靶向桑克序列以确认家庭所有成员中候选变体的存在，并筛选其他患者进行特调综合征。串联MS / MS对遗传性代谢障碍的分析显示了所有家庭成员的状态，正常，并且核型化表明患者没有染色体畸变。 WES技术的进一步调查表明SPG20基因中的纯合物畸形变体，C.1006C [T.突变的靶向测序结果证实了受影响案例的Homozygote状态和他父母的杂合子基因型。将突变分类为致病性。新型变体的检测尤其是致病性变异素SPG20基因与细胞综合征有关，其编码多官能蛋白质称为Spartin，有助于改善遗传变异性的表型相关性，并且可以促进初步诊断特罗利综合征的初步诊断。

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