全球CSF1R相关疾病的存在和透率
Jaroslaw Dulski1, Matthew Baker1, Samantha A Banks1
1From the Department of Neurology (J.D., Z.K.W.), Mayo Clinic, Jacksonville, FL; Division of Neurological and Psychiatric Nursing (J.D.), Faculty of Health Sciences, Medical University of Gdansk; Neurology Department (J.D.), St Adalbert Hospital, Copernicus PL Ltd., Gdansk, Poland; Department of Neuroscience (M. Baker), Mayo Clinic, Jacksonville, FL; Department of Neurology (S.A.B., O.H.K.), Mayo Clinic, Rochester, MN; Department of Neurology (M. Bayat); Centre for Rare Diseases (M. Bayat), Aarhus University Hospital, Aarhus, Denmark; Experimental Neurobiology Unit (R.B.), Department of Biomedical Sciences, University of Antwerp; Department of Neurology, Antwerp University Hospital, Belgium; Center for Research in Genetics and Genomics (CIGEN) (G.O.C.), Autonomous University of Coahuila, México; Universidade Federal do Paraná (C.C.D.), Hospital de Clínicas, Departamento de Medicina Interna, Serviço de Neurologia, Curitiba, Brazil; Department of Pediatrics (K.S.F.), Section of Neurology and Developmental Neuroscience, Baylor College of Medicine (BCM), Houston, TX; Department of Paediatrics (J.N.J.), St. Johns Medical College, Bangalore, Karnataka, India; Office of the Dean (B.K.), University of Pécs, School of Medicine; Molecular Medicine (B.K.), Markusovszky University Teaching Hospital, Szombathely, Hungary; Immunology and Molecular Biology Laboratory of Experimental and Clinical Medicine Institute at the O'Bogomolets National Medical University (D.M.), Kyiv, Ukraine; General Practice (C.M.), Brisbane, Queensland, Australia; Department of Cognitive Neurology and Neurodegenerative Diseases (G.N.), University Clinic of Neurology, Medical Faculty, University "Ss. Cyril and Methodius", Institute for Alzheimer's Disease and Neuroscience-Skopje; Research Center for Genetic Engineering and Biotechnology "Georgi D. Efremov" (D.P.-K.), Macedonian Academy of Sciences and Arts, Skopje, North Macedonia; Postgraduate Program in Child and Adolescent (S.R.), Department of Pediatrics, Federal University of Paraná, Curitiba; School of Medicine (J.S.), Pontificia Universidade Católica do Paraná (PUCPR); Department of Genetics (J.S.), Hospital Infantil Pequeno Príncipe; and Universidade Federal do Paraná (H.A.T.), Hospital de Clínicas, Departamento de Medicina Interna, Serviço de Neurologia, Setor de Distúrbios do Movimento, Curitiba, Brazil.
与CSF1R相关的疾病 (CSF1R-RD) 影响全球患者,症状在成年后出现. 哈普洛型分析揭示了de novo变体,马赛克主义和不完全的透性,这些都导致CSF1R-RD的负面家族史.
科学领域:
- 遗传学 遗传学 是一个
- 神经学 神经学
- 罕见疾病 罕见疾病
背景情况:
- 与CSF1R相关的疾病 (CSF1R-RD) 是一种罕见的遗传疾病,影响多个器官系统.
- 了解其全球流行和遗传基础对于诊断和管理至关重要.
研究的目的:
- 为了确定CSF1R-RD.在全球的分布.
- 调查CSF1R变种的透情况.
- 为CSF1R-RD.进行第一个哈普洛型分析.
主要方法:
- 收集全球患者数据,包括人口统计,基因型和临床状态.
- 在三个具有CSF1R p.Ile794Thr变异的家族上使用短串联重复多态形态进行了哈普类型分析.
主要成果:
- 确定了来自美洲,亚洲,澳大利亚和欧洲的14个家庭的19名新患者.
- 发现了15种CSF1R变异,包括8种新型变异;注意到发病年龄和死亡率的变化.
- 哈普洛型分析表明,在两个家族中共享的哈普洛型,这表明一些新变异的共同起源.
结论:
- CSF1R-RD 呈现出全球流行.
- 新变种,马赛克主义和不完整的透性,可能受到遗传和环境因素的影响,解释了负面的家庭历史.
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