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LIG4 syndrome: clinical and molecular characterization in a Chinese cohort.
- Source :
-
Orphanet Journal of Rare Diseases . 5/29/2020, Vol. 15 Issue 1, p1-9. 9p. - Publication Year :
- 2020
-
Abstract
- <bold>Background: </bold>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.<bold>Results: </bold>All seven patients had growth restriction. Most patients (6/7) had significant microcephaly (< -ā3 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.833Gā>āT, 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.<bold>Conclusions: </bold>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. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 17501172
- Volume :
- 15
- Issue :
- 1
- Database :
- Academic Search Index
- Journal :
- Orphanet Journal of Rare Diseases
- Publication Type :
- Academic Journal
- Accession number :
- 143492172
- Full Text :
- https://doi.org/10.1186/s13023-020-01411-x