海南医学2023年7月第34卷第13期HainanMedJ,Jul.2023,Vol.34,No.13RBM10基因变异导致TARP综合征一例夏倩，李承燕，叶中绿广东医科大学附属医院儿童医学中心，广东湛江524000【摘要】遗传学因素是儿童多发畸形的常见病因。本文报道一例TARP综合征患儿的临床特征与RBM10基因变异情况。患儿临床特征为喂养困难、发育迟缓、肢体抖动、视力障碍、听力缺失、永存左上腔静脉、后颅窝Blake囊肿、舌后坠、小下颌。父母表型无异常。全外显子测序检测+拷贝数变异发现患儿染色体Xp11.23上RBM10基因15~17号外显子半合缺失(chrX：47041146-47041762)。经Sanger验证分析，该变异来源于母亲。结合患儿临床表型，诊断为TARP综合征。目前该病尚无特异性治疗，应重视产前检查，必要时需行全外显子组测序检查。对于携带RBM10变异母亲，应做好产前遗传诊断。【关键词】儿童；TARP综合征；RBM10基因；多发畸形【中图分类号】R442.8【文献标识码】D【文章编号】1003—6350（2023）13—1934—05TARPsyndromecausedbyRBM10genemutation:acasereport.XIAQian,LICheng-yan,YEZhong-lv.Children'sMedicalCenter,theAffiliatedHospitalofGuangdongMedicalUniversity,Zhanjiang524000,Guangdong,CHINA【Abstract】Geneticfactorsarecommoncausesofmultiplemalformationsinchildren.Thispaperreportstheclin-icalcharacteristicsandRBM10genevariationofachildwithTARPsyndrome.Theclinicalfeaturesincludefeedingdiffi-culties,developmentaldelay,limbjailing,visualimpairment,hearingloss,persistentleftsuperiorvenacava,posteriorfossablakecyst,posteriorlingualpendant,andsmallmandible.Theparents'phenotypewasnormal.Wholeexonse-quencingandcopynumbervariationrevealedhemizygousdeletionofexon15-17ofRBM10geneonchromosomeXp11.23(chrX:47041146-47041762).Sanger’svalidationanalysisindicatedthatthemutationwasofmaternalorigin.Combinedwiththeclinicalphenotypeofthechild,thediagnosiswasTARPsyndrome.Thereisnospecifictreatmentforthisdisease,thusprenataltestingshouldbeemphasized,withwholeexomesequencingifnecessary.Formotherscarry-ingtheRBM10variant,prenatalgeneticdiagnosisshouldbemade.【Keywords】Children;TARPsyndrome;RBM10gene;Multiplemalformations·个案报道·doi:10.3969/j.issn.1003-6350.2023.13.025第一作者：夏倩(1997—)，女，...
