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Intracranial aneurysm (IA) is characterized by an abnormal bulging of one of the arteries in the brain and is heavily affected by genetic factors. Although IA is a very serious disease because of its severity and prevalence in the general public, the gene causing IA has not yet been identified due mainly to the lack of definitive genetic loci for the disease. Following a model-based family collection that recruited families from a geographically limited area that inherited IA as an autosomal dominant trait, we conducted a genome-wide linkage analysis. Significant evidence of linkage to IA was found on chromosome 8p22.2 with a maximum two-point logarithm of the odds ratio score of 3.61 under an autosomal dominant model of inheritance. The methods described in this study could be applied to localize disease-causing genes of other complex diseases through either a genome-wide linkage analysis or a genome-wide association study.
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http://dx.doi.org/10.1038/jhg.2011.27 | DOI Listing |
Am J Forensic Med Pathol
September 2025
Department of Pathology, St Louis University School of Medicine, Office of the Medical Examiner - City of St. Louis, St. Louis, MO.
Myotonic dystrophy type 1, or dystrophia myotonica type 1 (DM1), is a multisystem disorder inherited in an autosomal dominant manner. It is caused by a CTG tri-nucleotide expansion in the 3'-untranslated region (3'-UTR) of the dystrophia myotonia protein kinase (DMPK) gene. Core clinical features include progressive skeletal muscle weakness, myotonia, and systemic complications, with premature mortality most often due to respiratory or cardiac dysfunction.
View Article and Find Full Text PDFEur J Case Rep Intern Med
August 2025
National Rehab Hospital, Dublin, Ireland.
Unlabelled: This report provides a detailed analysis of a singular case involving cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a male patient who suffered a stroke. Our investigation delves into the clinical manifestations, genetic foundations, diagnostic complexities, and prognosis associated with CADASIL. As a notable contributor to stroke occurrence in young patients, CADASIL's impact on morbidity and mortality is influenced by stroke-related complications and cognitive decline.
View Article and Find Full Text PDFClin Kidney J
September 2025
Department of Translational Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy.
Genome editing technologies, particularly clustered regularly interspaced short palindromic repeats (CRISPR)-Cas9, have transformed biomedical research by enabling precise genetic modifications. Due to its efficiency, cost-effectiveness and versatility, CRISPR has been widely applied across various stages of research, from fundamental biological investigations in preclinical models to potential therapeutic interventions. In nephrology, CRISPR represents a groundbreaking tool for elucidating the molecular mechanisms underlying kidney diseases and developing innovative therapeutic approaches.
View Article and Find Full Text PDFSurg Case Rep
September 2025
Department of Surgery, Graduate School of Medicine, Kyoto University, Kyoto, Kyoto, Japan.
Introduction: von Hippel-Lindau (VHL) disease is an autosomal dominant hereditary disorder characterized by the development of tumor-like lesions in multiple organs. While central nervous system hemangioblastomas, pancreatic neuroendocrine tumors, and pancreatic cysts are commonly associated with VHL disease, there have been few reported cases of pancreatic hemangioblastoma in patients with VHL disease.
Case Presentation: A male patient in his 30s had been diagnosed with VHL disease and had been followed for cerebellar and spinal hemangioblastomas, and renal cell carcinoma, for which he had undergone several tumor resections, radiation therapy, and a ventriculoperitoneal shunt.
Surg Case Rep
September 2025
Department of Surgery, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Nagasaki, Japan.
Introduction: Osler-Weber-Rendu syndrome, or hereditary hemorrhagic telangiectasia (HHT), is a rare autosomal dominant genetic vascular disease characterized by arteriovenous malformations, vascular wall fragility, dilatation, and rupture of the vessels with hepatic symptoms. As HHT with hepatic symptoms is recognized as the primary etiology for liver transplantation, liver transplantation with liver grafts from donors affected by HHT is extremely rare. Herein, we report a successful liver transplantation in a patient with biliary atresia who received a whole-liver graft from a young brain-dead donor with HHT.
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