一例Rothmund-Thomson综合征患儿的RECQL4基因变异分析  

Analysis of RECQL4 gene variant in a child with Rothmund-Thomson syndrome

作　　者：吴秋萍 翁蔚琪 袁金娜[1] 许晓琴[1] 黄轲[1] 董关萍[1] 傅君芬[1] 吴蔚[1] Wu Qiuping;Weng Weiqi;Yuan Jinna;Xu Xiaoqin;Huang Ke;Dong Guanping;Fu Junfen;Wu Wei(Department of Endocrinology,The Affiliated Children’s Hospital of Zhejiang University School of Medicine,National Clinical Research Center for Child Health,National Children’s Regional Medical Center,Hangzhou,Zhejiang 310052,China;Department of Pediatrics,Taizhou Cancer Hospital,Taizhou,Zhejiang 317500,China)

机构地区：[1]浙江大学医学院附属儿童医院内分泌科,国家儿童健康与疾病临床医学研究中心,国家儿童区域医疗中心,杭州310052 [2]台州市肿瘤医院儿科,浙江317500

出　　处：《中华医学遗传学杂志》2022年第1期31-34,共4页Chinese Journal of Medical Genetics

基　　金：国家卫生计生委科学研究基金-浙江省医药卫生重大科技计划项目(WKJ-ZJ-1804)。

摘　　要：目的探讨1例Rothmund-Thomson综合征(Rothmund-Thomson syndrome,RTS)患儿的临床表现和基因变异,明确其可能的致病原因。方法采集患儿及其父母、妹妹的外周血,对患儿进行全外显子组测序进行基因变异分析,并用Sanger测序方法对变异基因的家系分布进行验证。结果基因检测结果显示患儿RECQL4基因存在c.1048_1049delAG(p.Arg350fs*21)和c.2886-1G>A复合杂合变异,其中c.2886-1G>A为未见报道的新变异。根据美国医学遗传学与基因组学学会(ACMG)指南,c.1048_1049delAG判定为致病性变异(PVS1+PM3_Strong+PM2),c.2886-1G>A考虑为可能致病性变异(PVS1+PM2)。结论RECQL4基因变异可能为这例RTS患儿的致病原因,本研究结果丰富了RECQL4基因变异谱。Objective To explore the genetic basis for a child with Rothmund-Thomson syndrome(RTS).Methods The child has featured poikeloderma,short stature,cataract,sparse hair and skeletal malformation.Peripheral blood samples of the child and her family members were collected and subjected to whole exome sequencing.Candidate variants were verified by Sanger sequencing.Results The child was found to harbor compound heterozygous variants of the RECQL4 gene,namely c.1048_1049delAG and c.2886-1G>A,among which c.2886-1G>A was unreported previously.According to the ACMG guidelines,the c.1048_1049delAG was predicted to be pathogenic(PVS1+PM3_Strong+PM2),while the c.2886-1G>A was predicted to be likely pathogenic(PVS1+PM2).Conclusion The compound heterozygous variants of the RECQL4 gene probably underlay the pathogenesis of RTS in this patient.Above finding has enriched the mutational spectrum of the RECQL4 gene.

关 键 词：ROTHMUND-THOMSON综合征 皮肤异色征 RECQL4基因 基因变异 

分 类 号：R725.9[医药卫生—儿科]