中国循证儿科杂志 ›› 2021, Vol. 16 ›› Issue (2): 136-140.DOI: 10.3969/j.issn.1673-5501.2021.02.011

• 论著 • 上一篇    下一篇

KMT2D基因致病变异致Kabuki综合征新生儿14例病例系列报告并文献复习

陈晓青1,4, 胡黎园1,4, 王来栓1, 程国强1, 曹云1, 陈超1, 王慧君3, 周文浩1, 杨琳2   

  1. 复旦大学附属儿科医院 上海,201102;1 新生儿科,2 内分泌遗传代谢科,3 分子生物中心,4 共同第一作者
  • 收稿日期:2021-01-11 修回日期:2021-04-14 出版日期:2021-04-25 发布日期:2021-06-04
  • 通讯作者: 周文浩, email: zhouwenhao@fudan.edu.cn;杨琳, email: yanglin_fudan@163.com
  • 基金资助:
    1 上海市2020年度“科技创新行动计划”医学创新研究专项:20Z11900600;2 申康促进市级医院临床技能与临床创新能力三年行动计划项目:SHDC2020CR6028-002

14 cases of Kabuki syndrome caused by KMT2D gene mutation in neonates: A case series report and literature review

CHEN Xiaoqing1,4, HU Liyuan1,4, WANG Laishuan1, CHENG Guoqiang1, CAO Yun1, CHEN Chao1, WANG Huijun3, ZHOU Wenhao1, YANG Lin2   

  1. Children's Hospital of Fudan University, Shanghai 201102, China;1 Department of Neonatology, 2 Department of Endocrinology, Genetics and Metabolism, 3 Center of Molecular Biology, 4 Co-first author
  • Received:2021-01-11 Revised:2021-04-14 Online:2021-04-25 Published:2021-06-04
  • Contact: ZHOU Wenhao, email: zhouwenhao@fudan.edu.cn;YANG Lin, email: yanglin_fudan@163.com

摘要: 背景 Kabuki综合征(KS)是一种罕见的多发畸形综合征,主要临床表现为特殊面容、骨骼异常、智力障碍等。KMT2D基因致病变异所致KS占75%。目前KS诊断标准用于新生儿期诊断较为困难。目的 提出KMT2D基因突变所致KS在新生儿期的遗传筛查指征。设计 病例系列报告。方法 回顾性分析复旦大学附属儿科医院(我院)KMT2D基因突变所致KS新生儿的临床资料,检索2010至2020年报告的相关文献,提取新生儿临床特征。主要结局指标 KMT2D基因突变位点与新生儿临床表型。结果 根据455例KMT2D基因突变所致KS新生儿(我院14例,文献复习441例),新生儿期筛查指征包括:肌张力异常、骨骼异常、喂养困难、心脏异常、低血糖症和听力异常。结论 KMT2D基因突变所致KS新生儿期与儿童期临床表型谱差异较大,应建立新生儿期遗传筛查指征。

关键词: KMT2D基因, Kabuki综合征, 新生儿

Abstract: Background Kabuki syndrome (KS) is a rare multi-deformities syndrome with major clinical manifestations such as facial abnormalities, skeletal abnormalities and mental retardation. Seventy-five percent of KS is caused by KMT2D gene pathogenic variation. According to current diagnostic criteria of KS, it is difficult to make diagnosis of KS in the neonatal period of patients.Objective To propose the genetic screening indications of KS in neonatal period caused by KMT2D gene mutation.DesignCase series report.Methods We extracted clinical characteristics from patients, who were diagnosed with KS caused by KMT2D gene pathogenic variation in Children's Hospital of Fudan University and relevant literature reported from 2010 to 2020.Main outcome measures Mutation sites of KMT2D gene and clinical characteristics of patients in neonatal period.Results According to 455 cases of KS newborns caused by KMT2D gene mutation (14 cases from CHFU, 441 cases from literature), the neonatal genetic screening indications included dystonia, skeletal abnormalities, feeding difficulties, cardiac abnormalities, hypoglycemia and hearing abnormalities.Conclusion The phenotypic spectrum of children with KS caused by KMT2D mutation is different between neonates and children, and genetic screening indications of neonates should be established.

Key words: KMT2D gene, Kabuki syndrome, Neonate