A family with X-linked benign familial hematuria |
| |
Authors: | Kazunari Kaneko Sachiyo Tanaka Masafumi Hasui Kandai Nozu Rafal Przybyslaw Krol Kazumoto Iijima Keisuke Sugimoto Tsukasa Takemura |
| |
Institution: | (1) Department of Pediatrics, Kansai Medical University, 2-3-1 Shin-machi, Hirakata-shi, Osaka 573-1191, Japan;(2) Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan;(3) Department of Pediatrics, Kinki University School of Medicine, Osaka, Japan |
| |
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. |
| |
Keywords: | |
本文献已被 SpringerLink 等数据库收录! |
|