A family with X-linked benign familial hematuria
A family with X-linked benign familial hematuria
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DOI：
10.1007/s00467-009-1370-z
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发表时间：
2010-03-01
影响因子：
3
通讯作者：
Takemura, Tsukasa
中科院分区：
文献类型：
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作者：
Kaneko, Kazunari;Tanaka, Sachiyo;Takemura, Tsukasa
位于Xq22上的COL4A5基因突变被认为引起X连锁Alport综合征，而位于2号染色体上的COL4A3和COL4A4突变与常染色体遗传的Alport综合征或良性家族性血尿相关。本文首次报道了一个由COL4A5突变引起的良性家族性血尿家族，暗示X连锁传播。这一结果表明，COL4A5应该被添加到良性家族性血尿的致病基因列表中，尽管相同突变导致不同表型（即X连锁Alport综合征或良性家族性血尿）的机制仍然未知。
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.