Retinitis pigmentosa and renal failure in a patient with mutations in INVS
Retinitis pigmentosa and renal failure in a patient with mutations in INVS
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DOI：
10.1093/ndt/gfl088
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发表时间：
2006-07-01
影响因子：
6.1
通讯作者：
Hildebrandt, Friedhelm
中科院分区：
文献类型：
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作者：
O'Toole, John F.;Otto, Edgar A.;Hildebrandt, Friedhelm
背景资料。肾单位病(NPHP)是一种常染色体隐性遗传病，是生前30年内最常见的终末期肾病的遗传原因。这种疾病是由NPHP 1-5基因突变引起的，分别被称为NPHP 1-5型。NPHP与视网膜色素变性(RP)的相关性被称为老年洛肯综合征(SLS)。NPHP 1型、3型和4型中有10%的病例与RP有关，而NPHP 5型中的所有病例都与RP有关，但在NPHP的婴儿型NPHP 2型中则没有。2型NPHP与其他类型NPHP的区别在于发病年龄较早和肾脏囊性肿大。通过外显子测序，对一个血缘关系密切的婴幼儿NPHP和RP患儿进行了所有5个NPHP基因的突变分析。在该儿童中发现了反转蛋白(INVS)外显子13(C2719T，R907X)的纯合子突变。这是第一次在NPHP2型和INVS突变患者中发现RP。此报告现在将RP与NPHP的关联扩展到NPHP类型2。
Background. Nephronophthisis (NPHP) is an autosomal recessive disease, which is the most common genetic cause of end-stage renal disease in the first three decades of life. The disease is caused by mutations in the NPHP 1-5 genes, and is referred to as NPHP types 1-5, respectively. The association of NPHP and retinitis pigmentosa (RP) is known as Senior-Loken syndrome (SLS). The RP is associated with 10% of cases of NPHP types 1, 3 and 4, and all cases of NPHP type 5, but never in NPHP type 2, the infantile form of NPHP. The NPHP type 2 is distinguished from other types of NPHP by its early age of onset and by cystic enlargement of the kidneys.Methods. Mutational analysis of all five NPHP genes was performed by exon sequencing in a child with infantile NPHP and RP from a consanguineous kindred.Results. A homozygous mutation was identified in exon 13 of inversin (INVS) (C2719T, R907X) in this child.Conclusions. This is the first report of the presence of RP in a patient with NPHP type 2 and INVS mutations. This report now extends the association of RP with NPHP to NPHP type 2.