临床儿科杂志 ›› 2020, Vol. 38 ›› Issue (6): 459-.doi: 10.3969/j.issn.1000-3606.2020.06.014

• 综合报道 • 上一篇    下一篇

2q31.1 微缺失综合征1 例报告并文献复习

陈静,田茂强,李娟, 束晓梅   

  1. 遵义医科大学附属医院小儿内一科(贵州遵义 563003)
  • 出版日期:2020-06-15 发布日期:2020-06-12
  • 通讯作者: 束晓梅 电子信箱:shuxiaomei1993@sina.com

Nervous system involvement in 2q31.1 microdeletion syndrome caused by mutation in LNPK: a case report and literature review

 CHEN Jing, TIAN Maoqiang, LI Juan, SHU Xiaomei   

  1. Department of Pediatric Medicine, Affiliated Hospital of Zunyi Medical University, Zunyi 563003, Guizhou, China
  • Online:2020-06-15 Published:2020-06-12

摘要: 目的 提高对2q31.1微缺失综合征基因型及表型的认识。方法 总结分析1例2q31.1微缺失综合征患儿 的临床资料并复习相关文献。结果 女性患儿,11月龄,自幼全面发育落后伴惊厥2次,特殊面容,肢端畸形,四肢肌张力 减低,指、趾畸形;头颅MRI示胼胝体发育不良。应用染色体芯片检测技术,采用比较基因组杂交技术(array-CGH)证实 2q31.1-2q31.3区域存在7.279 Mb微缺失:arr 2q31.1q31.3 (174570453-181849708)× 1。患儿确诊为2q31.1微缺失 综合征。文献报道2q31.1微缺失综合征中HOXD基因簇及其调控序列的单倍体剂量不足导致肢端畸形;LNPK功能缺失 性变异导致惊厥发作合并胼胝体发育不良的神经发育性疾病,表现为精神运动发育迟滞、智力障碍、肌张力减低、惊厥发 作和胼胝体发育不全。该患儿神经系统受累表现与LNPK单基因变异的表型相似,推测患儿神经系统受累可能由LNPK单 倍体剂量不足导致。 结论 对全面发育落后合并肢端畸形者需警惕2q31.1微缺失综合征。

关键词: 2号染色体; 2q31.1微缺失综合征; 肢端畸形

Abstract: Objective To improve the understanding of genotype and phenotype of 2q31.1 microdeletion syndrome. Method The clinical data of 2q31.1 microdeletion syndrome in a child were analyzed, and the relevant literature was reviewed. Results An 11-month-old girl had global developmental delay and convulsions for 2 times since birth. She presented with special faces, deformity of extremities, decreased muscle tension of limbs, deformity of toes and fingers. MRI of the brain showed dysplasia of the corpus callosum. The microdeletions of 7.279 Mb in 2q31.1-2q31.3 region: arr 2q31.1q31.3 (174570453-181849708) ×1 were confirmed by chromosome chip detection and comparative genomic hybridization (array CGH). The child was diagnosed with 2q31.1 microdeletion syndrome finally. It has been reported that the haploinsufficiency of HOXO gene cluster and its regulatory sequence in 2q31.1 microdeletion syndrome leads to limb deformity. The loss-of-function mutations of LNPK result in neurodevelopmental disorders with convulsive seizures and corpus callosum hypoplasia, characterized by psychomotor retardation, mental retardation, hypotonia, convulsive seizures and corpus callosum hypoplasia. The neurological involvement of this child is similar to the phenotype of LNPK single gene mutation. Thus, it is speculated that the neurological involvement of the child may be caused by haploinsufficiency of LNPK. Conclusion It is necessary to be aware of 2q31.1 microdeletion syndrome in patients with global developmental delay and limb deformity.

Key words:  chromosome 2; 2q31.1 microdeletion syndrome; limb deformity