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LIG4 syndrome: clinical and molecular characterization in a Chinese cohort.
Orphanet Journal of Rare Diseases ( IF 3.4 ) Pub Date : 2020-05-29 , DOI: 10.1186/s13023-020-01411-x Bijun Sun 1 , Qiuyu Chen 1 , Ying Wang 1 , Danru Liu 1 , Jia Hou 1 , Wenjie Wang 1 , Wenjing Ying 1 , Xiaoying Hui 1 , Qinhua Zhou 1 , Jinqiao Sun 1 , Xiaochuan Wang 1
Orphanet Journal of Rare Diseases ( IF 3.4 ) Pub Date : 2020-05-29 , DOI: 10.1186/s13023-020-01411-x Bijun Sun 1 , Qiuyu Chen 1 , Ying Wang 1 , Danru Liu 1 , Jia Hou 1 , Wenjie Wang 1 , Wenjing Ying 1 , Xiaoying Hui 1 , Qinhua Zhou 1 , Jinqiao Sun 1 , Xiaochuan Wang 1
Affiliation
DNA Ligase IV (LIG4) syndrome is a rare disease with few reports to date. Patients suffer from a broad spectrum of clinical features, including microcephaly, growth retardation, developmental delay, dysmorphic facial features, combined immunodeficiency, and malignancy predisposition. There may be a potential association between genotypes and phenotypes. We investigated the characteristics of LIG4 syndrome in a Chinese cohort. All seven patients had growth restriction. Most patients (6/7) had significant microcephaly (< − 3 SD). Recurrent bacterial infections of the lungs and intestines were the most common symptoms. One patient had myelodysplastic syndromes. One patient presented with an inflammatory bowel disease (IBD)-like phenotype. Patients presented with combined immunodeficiency. The proportions of naïve CD4+ and naïve CD8+ T cells decreased notably in five patients. All patients harbored compound heterozygous mutations in the LIG4 gene, which consisted of a missense mutation (c.833G > T, p.R278L) and a deletion shift mutation, primarily c.1271_1275delAAAGA (p.K424Rfs*20). Two other deletion mutations, c.1144_1145delCT and c.1277_1278delAA, were novel. Patients with p.K424Rfs*20/p.R278 may have milder dysmorphism but more significant IgA/IgM deficiency compared to the frequently reported genotype p.R814X/p.K424Rfs*20. One patient underwent umbilical cord blood stem cell transplantation (UCBSCT) but died. The present study reported the clinical and molecular characteristics of a Chinese cohort with LIG4 syndrome, and the results further expand the phenotypic and genotypic spectrum and our understanding of genotype-to-phenotype correlations in LIG4 syndrome.
更新日期：2020-05-29
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