A family with X-linked benign familial hematuria.
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.
Kaneko
Kazunari
K
Department of Pediatrics, Kansai Medical University, 2-3-1 Shin-machi, Hirakata-shi, Osaka 573-1191, Japan. kanekok@hirakata.kmu.ac.jp
Tanaka
Sachiyo
S
Hasui
Masafumi
M
Nozu
Kandai
K
Krol
Rafal Przybyslaw
RP
Iijima
Kazumoto
K
Sugimoto
Keisuke
K
Takemura
Tsukasa
T
D001324:Autoantigens / Q000235:genetics; D001706:Biopsy; D002648:Child; D024141:Collagen Type IV / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006417:Hematuria / Q000097:blood / Q000235:genetics*; D006801:Humans; D007150:Immunohistochemistry; D007668:Kidney / Q000473:pathology; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012867:Skin / Q000378:metabolism
D001324:Autoantigens; C466620:COL4A4 protein, human; C478159:COL4A5 protein, human; D024141:Collagen Type IV; C057112:type IV collagen alpha3 chain; D004247:DNA