کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5916237 | 1570716 | 2016 | 8 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Familial C3 glomerulonephritis caused by a novel CFHR5-CFHR2 fusion gene
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کلمات کلیدی
RCAC3GGBMDDDMLPAC3GNFHRSCRsImmunofluorescence - ایمونوفلورسانسdense deposit disease - بیماری سپرده متراکمmultiplex ligation-dependent probe amplification - تقویت پروب وابسته چندگانهshort consensus repeats - تکرار اجماع کوتاهglomerular basement membrane - غشاء زیر بغل گلومرولیElectron microscopy - میکروسکوپ الکترونیC3 glomerulonephritis - گلومرولونفریت C3C3 glomerulopathy - گلومرولوپاتی C3
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شناسی مولکولی
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
C3 glomerulopathy (C3G) is an ultra-rare complement-mediated renal disease characterized histologically by the predominance of C3 deposition within in the glomerulus. Familial cases of C3G are extremely uncommon and offer unique insight into the genetic drivers of complement dysregulation. In this report, we describe a patient who presented with C3G. Because a relative carried the same diagnosis, we sought an underlying genetic commonality to explain the phenotype. As part of a comprehension genetic screen, we completed multiplex ligation-dependent probe amplification across the complement factor H related region and identified amplification alterations consistent with a genomic rearrangement. Using comparative genomic hybridization, we narrowed and then cloned the rearrangement breakpoints thereby defining a novel fusion gene that is translated into a serum protein comprised of factor H related-5 (short consensus repeats 1 and 2) and factor H-related-2 (short consensus repeats 1-4). These data highlight the role of factor H related proteins in the control of complement activity and illustrate how perturbation of that control leads to C3G.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Immunology - Volume 77, September 2016, Pages 89-96
Journal: Molecular Immunology - Volume 77, September 2016, Pages 89-96
نویسندگان
Xue Xiao, Cybele Ghossein, AgustÃn Tortajada, Yuzhou Zhang, Nicole Meyer, Michael Jones, Nicolo Ghiringhelli Borsa, Carla M. Nester, Christie P. Thomas, Santiago RodrÃquez de Córdoba, Richard J.H. Smith,