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T and NK cell functionality in a patient harboring heterozygous novel BCL11B p.Asp632fsAla∗91 and STX11 p.R129P mutations.
Heliyon
February 2025
IQUIBICEN - Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Argentina.
BCL11B is a transcription factor essential for central nervous system development and T-cell differentiation that regulates numerous genes across various pathways. Heterozygous BCL11B defects can lead to a broad spectrum of phenotypes, including neurological disorders with or without immunological features. STX11 encodes a t-SNARE protein crucial for the final fusion of lytic granules with the plasma membrane of NK-cells and CD8 T-cells.
View Article and Find Full Text PDFBCL11B-related disease: a single phenotypic entity?
Eur J Hum Genet
March 2025
Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Craniosynostosis (CRS), the premature fusion of sutures between the skull bones, is characterised by a long "tail" of rare genetic diagnoses. This means that pathogenic variants in many genes are responsible for a minority of cases, and identifying these disease genes and delineating the associated phenotype is extremely important for patient diagnosis and for genetic counselling of families. One such gene is BCL11B.
View Article and Find Full Text PDFFamily with BCL11B Related Dystonia and Movement Disorders.
Mov Disord Clin Pract
February 2025
Norman Fixel Institute for Neurological Diseases, Department of Neurology, University of Florida Health, Gainesville, Florida, USA.
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
Am J Hum Genet
February 2025
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany; Institute of Clinical Human Genetics, University Hospital Regensburg, 93053 Regensburg, Germany. Electronic address:
BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants have been associated with a variety of developmental syndromes. However, genotype-phenotype correlations along with pathophysiologic mechanisms of selected variants mostly remain elusive.
View Article and Find Full Text PDFNovel classification system and high-risk categories of pediatric acute myeloid leukemia.
Haematologica
January 2025
Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN.
The prognosis of pediatric acute myeloid leukemia (AML) remains poor compared with pediatric acute lymphoblastic leukemia (ALL); accurate diagnosis and treatment strategies based on the genomic background are strongly needed. Recent advances in sequencing technologies have identified novel pediatric AML subtypes, including BCL11B structural variants and UBTF tandem duplications (UBTF-TD), associated with poor prognosis. In contrast, these novel subtypes do not fit into the diagnostic systems for AML of the 5th edition WHO classification or International Consensus Classifications (ICC) released in 2022.
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