临床儿科杂志 ›› 2020, Vol. 38 ›› Issue (2): 116-.doi: 10.3969/j.issn.1000-3606.2020.02.010

• 综合报道 • 上一篇    下一篇

MKS1 基因变异所致Joubert 综合征1 例临床及基因分析

张广宇, 李三松, 杨磊, 王明梅, 赵云霞, 朱登纳   

  1. 郑州大学第三附属医院儿童康复科(河南郑州 450052)
  • 发布日期:2020-02-20
  • 通讯作者: 朱登纳 电子信箱:zhudengna@126.com

Clinical and genetic analysis of a patient with Joubert syndrome caused by MKS1 gene mutation

 ZHANG Guangyu, LI Sansong, YANG Lei, WANG Mingmei, ZHAO Yunxia, ZHU Dengna   

  1. Department of Children Rehabilitation, The Third Affliated Hospital of Zhengzhou University, Zhengzhou 450052, Henan, China
  • Published:2020-02-20

摘要: 目的 对Joubert 综合征进行临床特点和遗传学分析。方法 回顾分析1例确诊的Joubert 综合征患儿的临床 资料。结果 患儿男性, 3个月,双眼不追视、发育落后,四肢肌张力偏低。头颅磁共振示“磨牙征”。 全外显子测序显示患 儿MKS1基因c.1411_c.1412insG及c.44A>G复合杂合突变。Sanger测序验证c.1411_c.1412insG移码突变来自于父亲, 已有报道;c.44A>G错义突变来自于母亲,未见报道,根据ACMG指南为可能致病变异。患儿确诊为Joubert综合征。结论 确诊患儿为Joubert综合征,新发现c.44A>G错义突变。

关键词:  Joubert 综合征; MKS1基因; 全外显子测序; 磁共振

Abstract:  Objective To investigate the clinical and genetic data of a pedigree clinically diagnosed as Joubert syndrome. Method Clinical data of a patient diagnosed as Joubert syndrome in 2017 was retrospectively analyzed. Whole exome sequencing and sanger sequencing were used to find the causative genes. Results The 3 months old boy displayed eye movement abnormalities, developmental delay and hypotonia in the four limbs. Cranial MRI showed “molar tooth sign”. The gene sequencing identified a frameshift mutation of c.1411_c.1412insG inherited from his father and a novel missense mutation of c.44A>G in MKS1 gene inherited from his mother. Conclusion The child has typical clinical features of Joubert syndrome. With Combination of clinical features and gene sequencing, the child was diagnosed as Joubert syndrome.

Key words: Joubert syndrome; MKS1 gene; whole exome sequencing; MRI