A Case Report of a Novel Variant of X-linked Alport Syndrome

Robert M Gaeta, John M. Childs, Anandita A. Datta, Juvianee Estrada-Veras, Robert Nee, Christina Yuan, John S. Thurlow

Research output: Contribution to journalArticlepeer-review


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.
Original languageAmerican English
Pages (from-to)1-3
Number of pages3
JournalNephrology & Renal Therapy
Issue number1
StatePublished - 21 Nov 2018


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