Glomerulopathy with fibronectin deposits (GFND) is a rare glomerular disorder. We report a 28-year-old male diagnosed with GFND by mass spectrometry on kidney biopsy tissue. Whole-exome sequencing (WES) identified that a previously undescribed FN1 gene mutation (c.3051G > T, p.W1017C) was likely responsible for this patient’s fibronectin glomerulopathy. We discuss the implications of this novel variant of FN1 and the importance of WES to identify a mutation in a gene of interest.

中文翻译：

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纤连蛋白肾小球病家族中FN1的新变异

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法诊断为GFND的28岁男性。全外显子测序（WES）证实，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这种新型变体的含义，以及WES识别感兴趣基因突变的重要性。