收集并分析2例Cockayne综合征患儿的临床表型和基因型。采集外周血，对先证者1家系进行一家三口全外显子组测序，对先证者2进行单独二代皮肤包靶向测序，并通过Sanger测序对变异位点进行家系验证。提取先证者1外周血RNA，逆转录为cDNA，后通过Sanger测序进行剪接突变验证。先证者1携带ERCC5（NM_000123.4）c.381-2A>G和c.403dup（T135NfsX28）复合杂合突变。先证者2携带ERCC6（NM_000124）纯合无义突变c.643G>T（p.E215X）。ERCC5基因c.381-2A>G及c.403dup（T135NfsX28）尚未报道过，剪接突变验证发现c.403dup为一个纯合的突变型，因此推测剪接突变和重复突变不在同一个单倍型，剪接突变影响剪接，产生的突变体发生了mRNA的降解。对于Cockayne综合征此类罕见的致死致残性疾病，应及早诊断、早期干预，基因型和临床表型的报道对指导预后至关重要。

To collect and analyze the clinical phenotypes and genotypes characteristics of two pediatric patients with Cockayne syndrome (CS). Peripheral blood was collected. Whole exome sequencing of a family of three was performed for the proband 1’s family, and targeted next-generation sequencing of the skin panel was carried out for proband 2 alone. Family verification of the variant sites was conducted by Sanger sequencing. Peripheral blood RNA of proband 1 was extracted, reverse-transcribed into cDNA, and then the splicing mutation was verified by Sanger sequencing. Proband 1 carried compound heterozygous mutations of ERCC5 (NM_000123.4) c.381-2A>G and c.403dup (T135NfsX28). Proband 2 carried a homozygous nonsense mutation of ERCC6 (NM_000124) c.643G>T (p.E215X). The mutations of c.381-2A>Gand c.403dup (T135NfsX28) in the ERCC5 gene have not been reported previously. The verification of the splicing mutation revealed that c.403dup was a homozygous mutant type. Therefore, it is speculated that the splicing mutation and the duplication mutation are not on the same haplotype. The splicing mutation affects splicing, and the generated mutant leads to the degradation of mRNA. For rare lethal and disabling diseases such as Cockayne syndrome, early diagnosis and early intervention should be carried out. The reports of genotypes and clinical phenotypes are crucial for guiding the prognosis.