Ontology highlight
ABSTRACT:
PROVIDER: PRJNA982127 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:SIFD (Congenital sideroblastic anemia, B-cell immunodeficiency, Periodic fevers and Developmental delay) Syndrome is caused by biallelic mutations in tRNA nucleotidyltransferase CCA-adding, 1 (TRNT1) gene. The onset of the disease is usually neonatal or in early infancy and the clinical presentation is widely heterogeneous. Myelodysplastic syndromes (MDS) with ring sideroblasts, which is characterised by somatic mutations in SF3B1 gene in more than 80% of cases, have never been reported as associated with SIFD Syndrome. Here we report a case of an adult male patient with a novel non-sense heterozygous mutation in TRNT1 gene, which developed MDS with somatic K700E SF3B1 mutation and trisomy 8. WES revealed additional somatic variations affecting genes implicated in cell proliferation, apoptosis and DNA mismatch repair: ARID1A, HERC1, IL4R, TMEM260 and CDKL3. Besides the typical recurrent aseptic pneumonias and sinopulmonary bacterial infections, he developed lymphohistiocytic subcutaneous panniculitis and subsequently a subcutaneous panniculitis-like T-cell lymphoma (SPTCL), suggesting that predisposition in the TRNT1 positive syndrome extends to both lymphoid and myeloid neoplasms. This report is particularly relevant to provide insights on the hematological impact of TRNT1 positive syndrome in adults and to improve early diagnosis and management of this rare disease.
2020-09-14 | GSE120007 | GEO
Project description:anaplastic astrocytoma with Lynch syndrome: a case report
| PRJEB49511 | ENA
Project description:A Case Report of Isolated Ectopia Lentis with a Novel ADAMTSL4 Compound Heterozygous Mutation
| PRJEB56181 | ENA
Project description:Renal transplantation in patients with cryopyrin-associated periodic syndrome: a case report and literature review
| PRJEB73450 | ENA
Project description:In our present study, we explored the circRNA expression profiles in cholesteatoma by deep RNA-seq analysis. We obtained totally 355 significantly differentially expressed circRNA in cholesteatoma, among which 101 were identified to be up-regulated, and 254 down-regulated. By constructing the circRNA-miRNA-mRNA ceRNA networks, it was discovered that circRNAs might contribute to cholesteatoma formation by functioning as ceRNAs for miRNAs.
2020-04-27 | GSE102715 | GEO