Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome
Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome
复制标题
DOI：
10.1002/humu.1111
复制
发表时间：
2001-01-01
期刊：
影响因子：
3.9
通讯作者：
Tryggvason, K
中科院分区：
文献类型：
--
作者：
Beltcheva, O;Martin, P;Tryggvason, K
先天性肾病综合征，芬兰型（CNF 或 NPHS1），是一种常染色体隐性遗传疾病，其特征是出生后不久出现大量蛋白尿和肾病综合征。这种疾病在芬兰很常见，但在其他人群中也发现了马努病患者。该疾病是由去氧肾上腺素基因突变引起的，去氧肾上腺素是肾小球超滤器（足细胞裂隙隔膜）的关键组成部分。据报道，全球先天性肾病综合征患者的去氧肾上腺素基因共有 30 种突变。在芬兰人群中，发现了两种主要突变。这两种无义突变占芬兰所有突变的 94% 以上。在非芬兰患者中发现的大多数突变都是错义突变，但也包括无义突变和剪接位点突变，以及缺失和插入。该突变更新总结了所有先前报告的去氧肾上腺素突变的性质，此外还描述了我们实验室最近发现的 20 个新突变 Hum Mutat 17:365-373, 2001。 (C) 2001 Wiley Liss, Inc.
Congenital nephrotic syndrome, Finnish type (CNF or NPHS1), is an autosomal recessive disease characterized by massive proteinuria and development of nephrotic syndrome shortly after birth. The disease is must common in Finland, but manu patients have been identified in other populations. The disease is caused by mutations in the gene for nephrin which is a key component of the glomerual ultrafilter, the podocyte slit diaphragm. A total of 30 mutations have been reported in the nephrin gene in patients with congenital nephrotic syndrome worldwide. In the Finnish population, two main mutations have been found. These two nonsense mutations account for over 94% of all mutations in Finland. Most mutations found in non-Finnish patients are missense mutations, but they include also nonsense and splice site mutations, as well as deletions and insertions. This mutation update summarizes the nature of all previously reported nephrin mutations and, additionally, describes 20 novel mutations recently identified in our laboratory Hum Mutat 17:365-373, 2001. (C) 2001 Wiley Liss, Inc.