A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations

Pediatric Nephrology : Journal of the International Pediatric Nephrology Association
Mardhiah MohammadJudy Savige

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

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Citations

Jun 12, 2016·Clinical Journal of the American Society of Nephrology : CJASN·Judy SavigeFrances Flinter
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

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