一名患有芬兰型先天性肾病综合征的日本患者肾连蛋白基因的新突变。
Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type.
作者信息
Aya K, Tanaka H, Seino Y
机构信息
Department of Pediatrics, Okayama University Medical School, Okayama, Japan.
出版信息
Kidney Int. 2000 Feb;57(2):401-4. doi: 10.1046/j.1523-1755.2000.00859.x.
BACKGROUND
Congenital nephrotic syndrome (CNS) of the Finnish type is a rare autosomal-recessive disorder. Kestila et al reported that a positionally cloned gene for a novel glomerular protein nephrin is mutated in CNS. Most Finnish patients have one of two mutations. In this study, we described a Japanese CNS family associated with a novel missense point mutation in the nephrin gene.
METHODS
Reverse transcription-polymerase chain reaction, polymerase chain reaction, and sequence analysis were used.
RESULTS
The patient had the three missense mutations homozygously. One mutation was already reported as sequence variant. The two other novel mutations were the GAG to AAG transition, leading to a Glu447Lys and the GAC to GTC transition, predicting an Asp819Val substitution in the nephrin protein.
CONCLUSION
Our findings indicate that an abnormality of nephrin may cause CNS of the Finnish type in Japanese subjects.
背景
芬兰型先天性肾病综合征（CNS）是一种罕见的常染色体隐性疾病。凯斯蒂拉等人报告称，一种新的肾小球蛋白nephrin的定位克隆基因在CNS中发生了突变。大多数芬兰患者有两种突变中的一种。在本研究中，我们描述了一个与nephrin基因中的一种新型错义点突变相关的日本CNS家系。
方法
采用逆转录-聚合酶链反应、聚合酶链反应和序列分析。
结果
该患者纯合地具有三种错义突变。一种突变已被报告为序列变异。另外两种新突变是从GAG到AAG的转变，导致Glu447Lys，以及从GAC到GTC的转变，预测在nephrin蛋白中有Asp819Val替代。
结论
我们的研究结果表明，nephrin异常可能导致日本受试者出现芬兰型CNS。
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