Whole exome sequencing reveals novel COL4A3 and COL4A4mutations and resolves diagnosis in Chinese families with kidney disease

被引：0
|
作者：
Fujun Lin
Fan Bian
Jun Zou
Xiangru Wu
Jianping Shan
Wei Lu
Yao Yao
Gengru Jiang
Daniel Philip Gale
机构：
[1] School of Medicine,Department of Nephrology, Xin Hua Hospital
[2] Shanghai Jiao Tong University,Department of Pathology, Xin Hua Hospital
[3] UCL Centre for Nephrology,undefined
[4] Royal Free Hospital,undefined
[5] School of Medicine,undefined
[6] Shanghai Jiao Tong University,undefined
来源：
BMC Nephrology | / 15卷
关键词：
Collagen IV-related nephropathies; Whole exome sequencing; Novel mutation; Misdiagnosis;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 50 条
  • [41] Prevalence of clinical, pathological and molecular features of glomerular basement membrane nephropathy caused by COL4A3 or COL4A4 mutations: a systematic review
    Matthaiou, Andreas
    Poulli, Tsielestina
    Deltas, Constantinos
    CLINICAL KIDNEY JOURNAL, 2020, 13 (06) : 1025 - 1036
  • [42] NO CLEAR INDICATION FOR DIGENIC INHERITANCE IN 60 INDIVIDUALS WITH DISEASE-CAUSING VARIANTS IN COL4A3, COL4A4 OR COL4A5 AND IN A MENDELIAN GENOMICS EXOME DATABASE OF MORE THAN 22,000 INDIVIDUALS
    Comic, Jasmina
    Riedhammer, Korbinian M.
    Guenthner, Roman
    Richthammer, Patrick
    Simmendinger, Hannes
    Kieffer, Donald
    Renders, Lutz
    Heemann, Uwe
    Braunisch, Matthias C.
    Moog, Ute
    Meitinger, Thomas
    Hoefele, Julia
    PEDIATRIC NEPHROLOGY, 2021, 36 (10) : 3364 - 3364
  • [43] A Novel COL4A5 Mutation Identified in a Chinese Han Family Using Exome Sequencing
    Xiu, Xiaofei
    Yuan, Jinzhong
    Deng, Xiong
    Xiao, Jingjing
    Xu, Hongbo
    Zeng, Zhaoyang
    Guan, Liping
    Xu, Fengping
    Deng, Sheng
    BIOMED RESEARCH INTERNATIONAL, 2014, 2014
  • [44] Heterozygous COL4A3 and COL4A4 patients with classic Alport syndrome morphology - unexpected genetic testing results after kidney biopsy
    Senjug, P.
    Horacek, M.
    Martic, T. Nikuseva
    Durdov, M. Glavina
    Dordevic, G.
    Coric, M.
    Ljubanovic, D. Galesic
    VIRCHOWS ARCHIV, 2021, 479 (SUPPL 1) : S43 - S43
  • [45] How to resolve confusion in the clinical setting for the diagnosis of heterozygous COL4A3 or COL4A4 gene variants? Discussion and suggestions from nephrologists
    Imafuku, Aya
    Nozu, Kandai
    Sawa, Naoki
    Nakanishi, Koichi
    Ubara, Yoshifumi
    CLINICAL AND EXPERIMENTAL NEPHROLOGY, 2020, 24 (08) : 651 - 656
  • [46] How to resolve confusion in the clinical setting for the diagnosis of heterozygous COL4A3 or COL4A4 gene variants? Discussion and suggestions from nephrologists
    Aya Imafuku
    Kandai Nozu
    Naoki Sawa
    Koichi Nakanishi
    Yoshifumi Ubara
    Clinical and Experimental Nephrology, 2020, 24 : 651 - 656
  • [47] THIN BASEMENT MEMBRANE NEPHROPATHY DUE TO HETEROZYGOUS COL4A3/COL4A4 MUTATIONS IS A MORE FREQUENT CAUSE OF ESKD COMPARED TO ALPORT SYNDROME
    Arsali, Maria
    Papazachariou, Louiza
    Demosthenous, Panayiota
    Lazarou, Akis
    Hadjigavriel, Michalis
    Stavrou, Christoforos
    Yioukkas, Lakis
    Voskarides, Konstantinos
    Deltas, Constantinos
    Zavros, Michalis
    Pierides, Alkis
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2013, 28 : 313 - 314
  • [48] COL4A3 mutations and their clinical consequences in thin basement membrane nephropathy (TBMN)
    Wang, YY
    Rana, K
    Tonna, S
    Lin, T
    Sin, L
    Savige, J
    KIDNEY INTERNATIONAL, 2004, 65 (03) : 786 - 790
  • [49] Monoallelic COL4A3/A4/A5 Pathogenic Variants Mimicking Autosomal Dominant Polycystic Kidney Disease
    Jawaid, Tabinda
    Senum, Sarah R.
    Madsen, Charles D.
    Ali, Hamad
    Torres, Vicente E.
    Harris, Peter C.
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2022, 33 (11): : 151 - 152
  • [50] A NEW TREATMENT OF PROTEASOME PATHWAY INTERVENTION FOR SEVERE COL4A3 MUTATION CAUSED KIDNEY DISEASE
    Zhang, Huidi
    Huang, Jianni
    Liu, Yunzi
    Ren, Hong
    Xie, Jingyuan
    Chen, Nan
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2018, 33 : 44 - 44
12345