摘要目的:分析1例Perlman综合征患儿的临床表型及 DIS3L2基因变异，了解其可能的致病原因。 方法:抽取患儿及其父母外周血，对患儿进行全外显子测序分析，根据筛出致病基因变异对患儿及其父母进行Sanger测序验证。按照美国医学遗传学与基因组学学会(American College of Medical Genetics and Genomics，ACMG)的基因变异解读标准与指南对基因变异进行致病性评估。结果:全外显子测序结果显示患儿 DIS3L2基因存在c.2109delC和c.1829-1830insC变异，Sanger测序结果显示患儿 DIS3L2基因存在c.2109delC和c.1829-1830insC复合杂合变异，父亲携带 DIS3L2基因c.1829-c.1830insC杂合变异，母亲携带 DIS3L2基因c.2109delC杂合变异；这2个变异均为未报道过的新变异(noval)，根据ACMG变异标准与指南，均判定为致病性变异(PVS1+PS2+PM2)。 结论:DIS3L2基因c.2109delC和c.1829-1830insC复合杂合变异可能是导致患儿临床表现的原因，新变异的检出丰富了 DIS3L2基因变异谱。

abstractsObjective:To analyze the clinical phenotype and genetic characteristics of a child with Perlman syndrome.Methods:Genomic DNA was extracted from peripheral blood samples from the patient and her parents. Whole exome sequencing (WES) was carried out to detect potential variant in the proband. Candidate variant was verified by Sanger sequencing. The pathogenicity of candidate variants was evaluated according to the guidelines of the American College of Medical Genetics and Genomics (ACMG).Results:The results of WES showed that the proband has harbored compound heterozygous variants of the DIS3L2 gene, namely c. 2109delC and c. 1829-c.1830insC, which were respectively inherited from her mother and father. The results were confirmed by Sanger sequencing. Based on the ACMG guidelines, the two novel variants were both predicted to be pathogenic (PVS1+ PS2+ PM2). Conclusion:The compound heterozygous variants of the DIS3L2 gene probably underlay the Perlman syndrome in this patient. Above finding has enriched the spectrum of DIS3L2 gene mutations.