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A novel variant in FN1 in a family with fibronectin glomerulopathy

机译:纤连蛋白肾小球病家族中FN1的新变异

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Glomerulopathy with fibronectin deposits (GFND) is a rare glomerular disorder. We report a 28-year-old malediagnosed with GFND by mass spectrometry on kidney biopsy tissue. Whole-exome sequencing (WES) identified thata previously undescribed FN1 gene mutation (c.3051G T, p.W1017C) was likely responsible for this patient’sfibronectin glomerulopathy. We discuss the implications of this novel variant of FN1 and the importance of WES toidentify a mutation in a gene of interest.
机译:带有纤连蛋白沉积物的肾小球病(GFND)是一种罕见的肾小球疾病。我们报告通过肾脏活检组织质谱分析诊断为GFND的28岁男性。全外显子测序(WES)发现,先前未描述的FN1基因突变(c.3051G> T,p.W1017C)可能是该患者的纤连蛋白肾小球病的原因。我们讨论了FN1的这种新型变体的含义,以及WES鉴定目标基因突变的重要性。

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