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Similar Publications
Severe Phenotype With RECQL4 Syndrome: A Report of Two Cases.
Am J Med Genet A
September 2024
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Article Synopsis
- - Baller-Gerold syndrome, RAPADILINO syndrome, and Rothmund-Thomson syndrome, which are linked to mutations in the RECQL4 gene, exhibit autosomal recessive inheritance and are often identified in infants and children.
- - Recent findings revealed two fetuses with severe structural abnormalities caused by biallelic RECQL4 variants during the perinatal period, such as underdeveloped forearms and legs, and one case involving significant lung issues.
- - One fetus tragically died due to respiratory failure, while the other pregnancy was terminated; the variants were confirmed through genetic sequencing techniques.
Atypical presentations of RECQL4-related syndromes.
Pediatr Blood Cancer
December 2024
Division of Oncology and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Article Synopsis
- * Diagnosis often relies on specific clinical features, but atypical presentations can lead to missed or delayed diagnoses, as seen in the five patients described.
- * Three patients with these atypical presentations developed osteosarcoma, emphasizing the need for vigilance in recognizing unusual signs of Rothmund-Thomson syndrome to ensure timely cancer monitoring.
Interdependence between Nuclear Pore Gatekeepers and Genome Caretakers: Cues from Genome Instability Syndromes.
Int J Mol Sci
August 2024
Genetica Medica, Dipartimento di Scienze Della Salute, Università Degli Studi di Milano, 20142 Milano, Italy.
Article Synopsis
- * It explores the relationship between nuclear pore complex (NPC) components and caretakers in genome instability syndromes, focusing on how defects in these caretakers affect NPC architecture in Werner syndrome and Hereditary Fibrosing Poikiloderma.
- * The review highlights the connection between damage sensors from both syndromes and the NPC, emphasizing their role in maintaining telomere length and restoring DNA damage at the nuclear periphery.
Update on Recommendations for Cancer Screening and Surveillance in Children with Genomic Instability Disorders.
Clin Cancer Res
November 2024
Division of Solid Tumor and Clinical Genetics, Department of Medicine and Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York.
Article Synopsis
- Genomic instability disorders involve DNA or chromosomal issues that can lead to developmental problems, immunodeficiency, and a higher likelihood of childhood cancers, along with extreme sensitivity to cancer treatments.
- The American Association of Cancer Research held a workshop in July 2023, where experts discussed updated guidelines for managing and monitoring children at risk for cancer due to these disorders.
- The article emphasizes the need to identify children with genomic instability disorders for accurate diagnosis, genetic counseling, and informed decisions regarding cancer screening and treatment options.
A family with nine siblings showing signs of Rothmund-Thomson syndrome with two being definitely diagnosed with the syndrome due to homozygous N-terminal mutation of RECQL4.
Clin Case Rep
August 2024
Genetics Department Breast Cancer Research Center, Motamed Cancer Institute, ACECR Tehran Iran.
Article Synopsis
- The study focuses on a family with nine children, where two have been confirmed to have RTS2 through genetic testing, while others show potential symptoms of the syndrome.
- It emphasizes the need for healthcare professionals to be vigilant about rare syndromes when diagnosing and treating patients.
- The timely application of genetic counseling and testing could have helped prevent additional births of affected children, highlighting the critical role of genetic testing in managing the risks associated with RTS2, including severe conditions like osteosarcoma.
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