国际生殖健康/计划生育杂志

国际生殖健康/计划生育杂志 ›› 2024, Vol. 43 ›› Issue (6): 471-474.doi: 10.12280/gjszjk.20240262

• 病例报告 • 上一篇    下一篇

KMT2D基因新发变异致歌舞伎面谱综合征一例

张丹莉, 石雪冬, 李建磊, 周立飞, 王文艺, 张萍萍, 李亚丽()   

  1. 050051 石家庄，河北省人民医院生殖遗传科
  • 收稿日期:2024-05-27 出版日期:2024-11-15 发布日期:2024-11-12
  • 通讯作者: 李亚丽，E-mail：lyl8703@sina.com
  • 基金资助:
    河北省医学科学研究课题计划(20240038)

A Novel KMT2D Variant Causing Kabuki Syndrome

ZHANG Dan-li, SHI Xue-dong, LI Jian-lei, ZHOU Li-fei, WANG Wen-yi, ZHANG Ping-ping, LI Ya-li()   

  1. Department of Reproductive and Genetics, Hebei General Hospital, Shijiazhuang 050051, China
  • Received:2024-05-27 Published:2024-11-15 Online:2024-11-12
  • Contact: LI Ya-li, E-mail: lyl8703@sina.com

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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。

关键词: 歌舞伎面谱综合征, KMT2D基因, 移码突变, 治疗, 病例报告

Abstract:

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.

Key words: Kabuki syndrome, KMT2D gene, Frameshift mutation, Therapy, Case reports