KMT2D基因新发变异致歌舞伎面谱综合征一例  

A Novel KMT2D Variant Causing Kabuki Syndrome

作　　者：张丹莉 石雪冬 李建磊 周立飞 王文艺 张萍萍 李亚丽[1] ZHANG Dan-li;SHI Xue-dong;LI Jian-lei;ZHOU Lifei;WANG Wen-yi;ZHANG Ping-ping;LI Ya-li(Department of Reproductive and Genetics,Hebei General Hospital,Shijiazhuang 050051,China)

机构地区：[1]河北省人民医院生殖遗传科,石家庄050051

出　　处：《国际生殖健康／计划生育杂志》2024年第6期471-474,共4页Journal of International Reproductive Health/Family Planning

基　　金：河北省医学科学研究课题计划(20240038)。

摘　　要：歌舞伎面谱综合征(Kabuki syndrome,KS)是一种罕见的多系统发育异常的疾病,常在儿童期发病。报告1例因智力低下、发育迟缓就诊的患儿,经全外显子组测序检测相关致病基因,并对家庭成员进行Sanger DNA测序验证,发现患儿KMT2D基因存在c.6752delC(p.S2251Cfs*13)移码突变,经ClinVar和人类基因突变数据库(Human Gene Mutation Database,HGMD)等数据库搜索未发现此突变位点的记载,其父母未携带该变异,此突变为新发的致病性突变。基因检测结果提示患儿为KMT2D基因新发变异所致的KS1型,该突变位点丰富了KS的临床基因突变谱及临床数据,对于该病家系的遗传咨询具有重要意义。Kabuki syndrome(KS)is a rare multi-phylogenetic disorder that often occurs in childhood.A case of a child with mental retardation and developmental delay was reported.Whole exome sequencing was performed to detect the related pathogenic genes,and Sanger DNA sequencing was performed in family members.Frameshift mutation,c.6752delC(p.S2251Cfs*13)in the KMT2D gene,was found in the child.The search in databases such as ClinVar and human gene mutation database(HGMD)did not find any record of this mutation site,and the parents did not carry the mutation,suggesting that this is a new pathogenic mutation.The results of genetic testing indicated that the case was a KS type I caused by a new mutation of KMT2D gene,which expanded the KMT2D gene mutation profile,and enriched the clinical data of KS.It is important to conduct genetic counseling for KS families.

关 键 词：歌舞伎面谱综合征 KMT2D基因 移码突变 治疗 病例报告 

分 类 号：R741[医药卫生—神经病学与精神病学]