A family with X-linked benign familial hematuria.

Pediatric Nephrology : Journal of the International Pediatric Nephrology Association
Kazunari KanekoTsukasa Takemura

Abstract

Gene mutations in COL4A5 located on Xq22 are believed to cause X-linked Alport syndrome, whereas mutations in COL4A3 and COL4A4 located on chromosome 2 are associated with autosomal inherited Alport syndrome or benign familial hematuria. A family with benign familial hematuria caused by COL4A5 mutation, implying X-linked transmission, is reported here for the first time. This result suggests that COL4A5 should be added to the list of causative genes for benign familial hematuria, although the mechanism(s) by which the same mutation leads to the distinct phenotypes, i.e. X-linked Alport syndrome or benign familial hematuria, remains unknown.

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Citations

Jun 21, 2011·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Constantinos DeltasKonstantinos Voskarides
May 28, 2015·European Journal of Human Genetics : EJHG·Xue Jun FuKazumoto Iijima
Feb 22, 2011·Clinical Genetics·P DemosthenousUNKNOWN Hellenic Nephrogenetics Research Consortium
Aug 22, 2018·Clinical and Experimental Nephrology·Kandai NozuKazumoto Iijima
Nov 21, 2020·Kidney Research and Clinical Practice·Kandai NozuKazumoto Iijima

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