A novel heterozygous COL4A4 missense mutation in a Chinese family with focal segmental glomerulosclerosis |
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| Authors: | Hongbo Xu Jinzhong Yuan Lamei Yuan Wei Xiong Xiong Deng Hao Deng |
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| Institution: | 1. Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China;2. Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China;3. Department of Nephrology, The Third Xiangya Hospital, Central South University, Changsha, China;4. Cancer Research Institute, Xiangya School of Medicine, Central South University, Changsha, China |
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| Abstract: | Focal segmental glomerulosclerosis (FSGS) is the most common glomerular histological lesion associated with high‐grade proteinuria and end‐stage renal disease. Histologically, FSGS is characterized by focal segmental sclerosis with foot process effacement. The aim of this study was to identify the disease‐causing mutation in a four‐generation Chinese family with FSGS. A novel missense mutation, c.1856G>A (p.Gly619Asp), in the collagen type IV alpha‐4 gene (COL4A4) was identified in six patients and it co‐segregated with the disease in this family. The variant is predicted to be disease‐causing and results in collagen IV abnormalities. Our finding broadens mutation spectrum of the COL4A4 gene and extends the phenotypic spectrum of collagen IV nephropathies. Our study suggests that exome sequencing is a cost‐effective and efficient approach for identification of disease‐causing mutations in phenotypically complex or equivocal disorders. Timely screening for COL4A3/COL4A4 mutations in patients with familial FSGS may help both accurately diagnose and treat these patients. |
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| Keywords: | focal segmental glomerulosclerosis the COL4A4 gene collagen IV nephropathies exome sequencing mutation |
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