A novel FN1 variant associated with familial hematuria: TBMN?
A novel FN1 variant associated with familial hematuria: TBMN?
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一种与家族性血尿相关的新型 FN1 变异：TBMN？
DOI：
10.1016/j.clinbiochem.2016.01.026
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发表时间：
2016-07
影响因子：
2.8
通讯作者：
Deng H
中科院分区：
文献类型：
--
作者：
Xiong W;Yang Z;Huang Y;Deng H
ObjectiveThin basement membrane nephropathy (TBMN), an autosomal dominant inherited condition in general, is characterized clinically by persistent hematuria and pathologically by thinning of glomerular basement membrane. TBMN is occasionally accompanied with proteinuria, hypertension and renal impairment in some cases. The aim of this study is to explore the genetic defect in a Chinese pedigree with familial hematuria.Design and methodsA four-generation Chinese Han pedigree with familial hematuria was recruited. Exome sequencing was conducted in the proband diagnosed as TBMN, followed by verification in the proband and other family members with Sanger sequencing.ResultsA novel missense variant, c.4616C > G (p.S1539C), in the fibronectin 1 gene (FN1), was identified, and it co-segregated with the disease condition in the family. It was not observed in 100 normal controls.ConclusionsA missense variant in theFN1gene is possibly responsible for familial hematuria or TBMN in this family, which may broaden the phenotype and mutation spectrums of theFN1gene. A male patient in this family progressed to end-stage renal disease requiring kidney transplantation, supporting that familial hematuria or TBMN may not always be as benign as generally thought. The findings may have new implications for clinical monitoring and genetic counseling of the family, and may also help understand the pathogenesis.
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DOI：
10.1056/nejmoa1309635
发表时间：
2014-03-06
期刊：
The New England journal of medicine
影响因子：
--
作者：
Caburet S;Arboleda VA;Llano E;Overbeek PA;Barbero JL;Oka K;Harrison W;Vaiman D;Ben-Neriah Z;García-Tuñón I;Fellous M;Pendás AM;Veitia RA;Vilain E
通讯作者：
Vilain E
影响因子：
14.9
作者：
Bromberg Y;Rost B
通讯作者：
Rost B
影响因子：
13.2
作者：
Baydar, Dilek Ertoy;Kutlugun, Aysun Aybal;Piras, Rossella
通讯作者：
Piras, Rossella
影响因子：
15.9
作者：
Lemmink, HH;Nillesen, WN;Smeets, HJM
通讯作者：
Smeets, HJM
中国帕金森病患者中的 EIF4G1 Ala502Val 和 Arg1205Hi 变异
影响因子：
2.5
作者：
Yuan, Lamei;Song, Zhi;Deng, Hao
通讯作者：
Deng, Hao