Abstract
Female subjects with X-linked Alport syndrome have a single COL4A5 mutation, germ cell mosaicism in affected tissues and typically develop renal failure later or less often than male subjects. Women with two mutations are exceedingly rare, and usually have consanguineous parents or uniparental disomy. We describe here a 20-year-old woman who inherited two different COL4A5 variants, one from her father (c.2677G>C) and one from her mother (c.384 +1 G>A). The index case had normal renal function, proteinuria and no clinically detectable hearing loss, or ocular abnormalities. Her father and paternal uncle developed end-stage renal disease at 37 and 28 years respectively, together with hearing loss, but not lenticonus or central retinopathy. Her mother had mildly impaired renal function, proteinuria, hearing loss, but no ocular abnormalities. Her maternal grandfather and 22-year-old brother, both with this mutation, developed renal failure by 28 years with hearing loss, or had proteinuria and hearing loss respectively. The index case has clinical features consistent with germ cell mosaicism of two COL45A mutations associated with adult-onset renal failure, but no ocular abnormalities. Her risk of renal failure is high, but the rate ...Continue Reading
References
Aug 1, 1983·The British Journal of Ophthalmology·J A Govan
Sep 1, 1994·Nature Genetics·T MochizukiH J Smeets
Feb 1, 1996·Acta Ophthalmologica Scandinavica·U O MeteM Kaya
Dec 1, 2001·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·H DagherJ Savige
Jul 10, 2002·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Oliver GrossManfred Weber
Sep 30, 2003·Journal of the American Society of Nephrology : JASN·Jean Philippe JaisMarie Claire Gubler
Sep 15, 2004·Human Mutation·Anton V PersikovBarbara Brodsky
Dec 8, 2004·Retina·Tomoaki UsuiHaruki Abe
Oct 31, 2006·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Elizabeth A ShawJudy Savige
Apr 28, 2009·American Journal of Medical Genetics. Part a·Katsunori FujiiYoichi Kohno
Dec 8, 2009·Clinical Journal of the American Society of Nephrology : CJASN·Rachel TanJudy Savige
Dec 15, 2011·Kidney International·Oliver GrossManfred Weber
Jan 13, 2012·Kidney International·Johanna TemmeOliver Gross
Jan 26, 2013·Journal of the American Society of Nephrology : JASN·Judy SavigeFrances Flinter
Citations
Jun 12, 2016·Clinical Journal of the American Society of Nephrology : CJASN·Judy SavigeFrances Flinter
Sep 15, 2016·PloS One·Judith SavigeMato Nagel
Jul 27, 2018·Canadian Journal of Kidney Health and Disease·Vinusha KalatharanMatthew B Lanktree
Jul 11, 2018·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Judy SavigeHelen Storey
Jun 30, 2019·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Erol Demir, Yasar Caliskan
Aug 18, 2021·Journal of the American Society of Nephrology : JASN·Joel GibsonUNKNOWN Genomics England Research Consortium