International Journal of Clinical Research
International Journal of Clinical Research. 2022; 6: (1) ; 10.12208/j.ijcr.20220020 .
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昆明市第一人民医院儿童生长发育管理中心 云南昆明
*通讯作者： 王爱萍,单位：昆明市第一人民医院儿童生长发育管理中心 云南昆明；
目的 报道1例由ERCC6基因突变导致的Cockayne综合征病例。方法 回顾性分析1例Cockayne综合征的临床资料，并检索相关文献，总结其基因型及临床特点。结果 患儿，男，2岁3月，主要表现为发育落后、生长迟缓、光敏性及小头畸形。基因分析显示患儿ERCC6基因有一个杂合变异，c. 3774delA（p.K1258Nfs*9），为移码变异。结论 Cockayne综合征是一种罕见的常染色体隐性遗传病，临床表现涉及多个系统，目前主要运用DNA测序分析进行基因诊断。
Objective To report a case of Cockayne syndrome with genetic mutation in ERCC6 gene. Method The clinic data of Cockayne syndrome in a child were retrospectively analyzed ,the related literatures were reviewed and its clinical features and genotypes were summarized. Results A boy, two years and three months old, had developmental delay、growth retardation、dermal photosensitivity and microcephaly. Gene analysis showed that there was genetic mutation in the ERCC6 gene of the boy, c. 3774delA (p.K1258Nfs*9), which was shift mutation. Conclusion s Cockayne syndrome is a rare, automasomal-recessive disorder, clinical manifestations involve multiple systems, DNA sequencing analysis is mainly used for gene diagnosis.
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