【摘要】：目的探討3M綜合征的臨床特征及致病基因。方法回顧分析1例3M綜合征患兒的臨床資料,并抽提患兒及父母外周血DNA,通過(guò)Agilent Sure Select外顯子捕獲和Illumina Hi Seq測(cè)序平臺(tái)進(jìn)行測(cè)序分析,同時(shí)對(duì)發(fā)現(xiàn)的突變基因進(jìn)行Sanger測(cè)序法驗(yàn)證。結(jié)果女性患兒,6月齡,特殊面容,生長(zhǎng)落后。患兒的CUL7基因(NM_014780.4)存在錯(cuò)義變異c.4898CT,p.T1633M,父母均為雜合突變。確診為3M綜合征。結(jié)論患兒為3M綜合征主要致病基因CUL7突變。對(duì)于臨床表型疑似病例應(yīng)早期進(jìn)行基因檢測(cè)以明確診斷。
[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.
【作者單位】： 貴州醫(yī)科大學(xué);貴州省人民醫(yī)院兒科;
【基金】：貴州省科技計(jì)劃項(xiàng)目(No.黔科號(hào)LH字[2016]7141)
【分類號(hào)】：R725.9

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