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De Novo Pathogenic Variant in , Non OMIM Gene Paralogue , Causes a Novel Recognizable Syndromic Manifestation with Intellectual Disability; An Additional Patient and Review of the Literature.
Genes (Basel)
June 2024
Department of Biosciences, Biotechnology and Environment, University of Bari Aldo Moro, 70125 Bari, Italy.
Article Synopsis
- - The AUTS2 gene family includes AUTS2 and FBRSL1, both of which may play roles in neurogenesis and transcription regulation, but FBRSL1's exact function remains unclear despite its relatedness to AUTS2.
- - A patient with a de novo truncating variant in FBRSL1 exhibited clinical symptoms linked to this genetic alteration, prompting research into how additional genetic factors, including duplications from both parents, might modulate the phenotype.
- - In-depth analysis combining protein structure predictions and genomic data suggests FBRSL1 could influence neurodevelopment and potentially be involved in distinct clinical syndromes, emphasizing the importance of genetic and epigenetic interactions in understanding these conditions.
Trim66's paternal deficiency causes intrauterine overgrowth.
Life Sci Alliance
July 2024
Epigenetics and Neurobiology Unit, EMBL Rome, European Molecular Biology Laboratory, Monterotondo, Italy
The tripartite motif-containing protein 66 (TRIM66, also known as TIF1-delta) is a PHD-Bromo-containing protein primarily expressed in post-meiotic male germ cells known as spermatids. Biophysical assays showed that the TRIM66 PHD-Bromodomain binds to H3 N-terminus only when lysine 4 is unmethylated. We addressed TRIM66's role in reproduction by loss-of-function genetics in the mouse.
View Article and Find Full Text PDFWilms tumour resulting from paternal transmission of a TRIM28 pathogenic variant-A first report.
Eur J Hum Genet
March 2024
University of Cambridge Department of Medical Genetics, Box 238 Level 6, Addenbrooke's Treatment Centre, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK.
Wilms tumour (nephroblastoma) is a renal embryonal tumour that is frequently caused by constitutional variants in a small range of cancer predisposition genes. TRIM28 has recently been identified as one such gene. Previously, observational data strongly suggested a parent of origin effect, whereby Wilms tumour only occurred following maternal inheritance of a pathogenic genetic variant.
View Article and Find Full Text PDFMulibrey nanism and immunological complications: a comprehensive case report and literature review.
Front Immunol
December 2023
Laboratory of Clinical Immunology and Microbiology, Immune Deficiency Genetics Section, National Institutes of Health, Bethesda, MD, United States.
Introduction: Mulibrey nanism (MUL) is a rare disorder caused by gene variants characterized by growth failure, dysmorphic features, congestive heart failure (CHF), and an increased risk of Wilms' tumor. Although immune system impairment has been documented in MUL, the underlying mechanisms remain poorly understood.
Methods: We present a case of MUL with progressive lymphopenia and review similar cases from the literature.
Humanization of a tandem repeat in IG-DMR causes stochastic restoration of paternal imprinting at mouse Dlk1-Dio3 domain.
Hum Mol Genet
May 2021
Department of Systems BioMedicine, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan.
The Dlk1-Dio3 imprinted domain, regulated by an intergenic differentially methylated region (IG-DMR), is important for mammalian embryonic development. Although previous studies have reported that DNA methylation of a tandem repeated array sequence in paternal IG-DMR (IG-DMR-Rep) plays an essential role in the maintenance of DNA methylation in mice, the function of a tandem repeated array sequence in human IG-DMR (hRep) is unknown. Here, we generated mice with a human tandem repeated sequence, which replaced the mouse IG-DMR-Rep.
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