{"title":"A Case Report of a Novel Variant of X-linked Alport Syndrome","authors":"R. Gaeta","doi":"10.24966/NRT-7313/100017","DOIUrl":null,"url":null,"abstract":"X-linked Alport syndrome is a rare hereditary disorder caused by variants of the COL4A5 gene. We describe a case of a 28 year old Caucasian male with a family history of end-stage renal disease presenting with episodic gross hematuria and nephrotic range proteinuria. Renal biopsy demonstrated focal segmental glomerulosclerosis with non-diagnostic ultrastructural findings. Next Generation Sequencing revealed a COL4A5 missense likely pathogenic variant, a substitution of adenine for guanine at nucleotide 901(c.901G>A) of the coding DNA predicting a glycine to serine substitution at amino acid 301 (p.Glyc301Ser). This variant has not been reported in literature or human genomic databases.","PeriodicalId":92035,"journal":{"name":"HSOA journal of nephrology & renal therapy","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2018-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"HSOA journal of nephrology & renal therapy","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.24966/NRT-7313/100017","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
X-linked Alport syndrome is a rare hereditary disorder caused by variants of the COL4A5 gene. We describe a case of a 28 year old Caucasian male with a family history of end-stage renal disease presenting with episodic gross hematuria and nephrotic range proteinuria. Renal biopsy demonstrated focal segmental glomerulosclerosis with non-diagnostic ultrastructural findings. Next Generation Sequencing revealed a COL4A5 missense likely pathogenic variant, a substitution of adenine for guanine at nucleotide 901(c.901G>A) of the coding DNA predicting a glycine to serine substitution at amino acid 301 (p.Glyc301Ser). This variant has not been reported in literature or human genomic databases.