Jichu yixue yu linchuang (Jun 2020)
Clinical characteristics and analysis of one case of LIG4 syndrome due to gene mutation
Abstract
Objective To explore the clinical characteristics of DNA ligase Ⅳ(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.833G＞T (p.R278L), the diagnosis of LIG4 syndrome was established. The features of LIG4 syndrome were analyzed from archived 42 cases, including this study. Conclusions Microcephaly, 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.
