3M综合征1例报告并文献复习
发布时间：2018-11-06 08:36
【摘要】：目的探讨3M综合征的临床特征及致病基因。方法回顾分析1例3M综合征患儿的临床资料,并抽提患儿及父母外周血DNA,通过Agilent Sure Select外显子捕获和Illumina Hi Seq测序平台进行测序分析,同时对发现的突变基因进行Sanger测序法验证。结果女性患儿,6月龄,特殊面容,生长落后。患儿的CUL7基因(NM_014780.4)存在错义变异c.4898CT,p.T1633M,父母均为杂合突变。确诊为3M综合征。结论患儿为3M综合征主要致病基因CUL7突变。对于临床表型疑似病例应早期进行基因检测以明确诊断。
[Abstract]:Objective to investigate the clinical features and pathogenic genes of 3 M syndrome. Methods the clinical data of one child with 3M syndrome were analyzed retrospectively. The DNA, in peripheral blood of the children and their parents were sequenced by Agilent Sure Select exon capture and Illumina Hi Seq sequencing platform. The mutated genes were confirmed by Sanger sequencing. Results female children, 6 months old, special face, backward growth. The CUL7 gene (NM_014780.4) had missense mutation c.4898CTp.T1633M.The parents were heterozygous mutations. The diagnosis was 3M syndrome. Conclusion CUL7 mutation is the main pathogenic gene of 3 M syndrome in children. Early genetic tests should be performed for the diagnosis of suspected clinical phenotypes.
【作者单位】： 贵州医科大学;贵州省人民医院儿科;
【基金】：贵州省科技计划项目(No.黔科号LH字[2016]7141)
【分类号】：R725.9
[Abstract]:Objective to investigate the clinical features and pathogenic genes of 3 M syndrome. Methods the clinical data of one child with 3M syndrome were analyzed retrospectively. The DNA, in peripheral blood of the children and their parents were sequenced by Agilent Sure Select exon capture and Illumina Hi Seq sequencing platform. The mutated genes were confirmed by Sanger sequencing. Results female children, 6 months old, special face, backward growth. The CUL7 gene (NM_014780.4) had missense mutation c.4898CTp.T1633M.The parents were heterozygous mutations. The diagnosis was 3M syndrome. Conclusion CUL7 mutation is the main pathogenic gene of 3 M syndrome in children. Early genetic tests should be performed for the diagnosis of suspected clinical phenotypes.
【作者单位】： 贵州医科大学;贵州省人民医院儿科;
【基金】：贵州省科技计划项目(No.黔科号LH字[2016]7141)
【分类号】：R725.9
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