一例因基因突变致LIG4综合征病例的临床特点及分析

目的探讨DNA连接酶Ⅳ(LIG4)综合征的临床特点。方法分析一例LIG4综合征病例的临床资料,对患儿及其父母进行二代高通量基因测序。结合文献总结该病的临床特点。结果本例患儿的临床表现有小头畸形,特殊面容,发育迟缓,免疫功能缺陷,反复呼吸道感染,慢性腹泻。基因检测结果显示患儿LIG4基因存在纯合性改变:c.833G>T(p.R278L),故诊断LIG4综合征。结合文献复习包括本研究在内的共42例LIG4综合征病例的临床特点。结论LIG4综合征临床特点主要有小头畸形,免疫功能缺陷,特殊面容,血细胞下降和发育迟缓。临床上反复呼吸道感染、小头畸形伴免疫缺陷患儿应警惕此病,基因检测可协助诊断。

Clinical characteristics and analysis of one case of LIG4 syndrome due to gene mutation

Objective To explore the clinical characteristics of DNA ligaseⅣ(LIG4)syndrome.Methods The clinical data of one case of LIG4 syndrome were analyzed,and the second-generation high-throughput gene sequencing was applied for the infant and his parents to identify the causative mutation.The clinical features of the disease were summarized with the relevant literatures.Results The case reported here had clinical manifestations of microcephaly,special face,growth retardation,immunodeficiency,recurrent respiratory infections,chronic diarrhea.The high-throughput sequencing showed the patient has carried mutation of LIG4 gene:c.833 G>T(p.R278 L),the diagnosis of LIG4 syndrome was established.The features of LIG4 syndrome were analyzed from archived 42 cases,including this study.ConclusionsMicrocephaly,immunodeficiency,special facial features,hematocytopenia and growth retardation are the main clinical symptoms of LIG4 syndrome.Children with recurrent respiratory infections,microcephaly and immunodeficiency should be vigilant for this disease.Gene testing would be helpful to confirm the diagnosis.