Clinical features of two patients with LIG4 syndrome caused by LIG4 gene mutation

VernacularTitle:LIG4综合征患者的临床特点及遗传学分析
Author: Qingjie MENG ¹ ; Peiwei ZHAO ; Huan WU ; Yun XIANG
Author Information

1. 华中科技大学同济医学院附属武汉儿童医院检验科，武汉　430016
Keywords: Genotype; Phenotype; LIG4 syndrome; LIG4 gene
From: Chinese Journal of Laboratory Medicine 2023;46(11):1201-1204
CountryChina
Language:Chinese
Abstract: The clinical data of 2 patients with LIG4 syndrome who presented to Wuhan Children′s Hospital from May 2020 to December 2021 were retrospectively analyzed and genetically analyzed. Both patients were male, aged from 5 months to 3 years. The clinical presentations were scattered rash and repeated infections (bacterial infection, EB virus, cytomegalovirus, etc). Laboratory tests showed that the neutrophil and lymphocyte counts decreased. Immunoassay revealed a significant is CD4+T, CD8+T, CD19+B lymphocytes and NK. By Whole exome sequencing, we found 2 inherited mutations inherited in the LIG4 gene (c.833G>T and c.1271_1275delAAAGA) from patient1, and another 2 inherited mutations (c.980T>G, c.1271_1275del) from patient 2. In this study, we found two new variants of LIG4 gene and expanded the mutation spectrum of this gene.