De novo SEC61A1 mutation in autosomal dominant tubulo-interstitial kidney disease: Phenotype expansion and review of literature

被引：7
|
作者：
Espino-Hernandez, Mar [1 ]
Palma Milla, Carmen [2 ]
Vara-Martin, Julia [1 ]
Gonzalez-Granado, Luis, I [3 ,4 ]
机构：
[1] Univ Hosp 12 Octubre, Pediat, Pediat Nephrol, Ave Cordoba S-N, Madrid 28041, Spain
[2] Univ Hosp 12 Octubre, Genet Dept, Madrid, Spain
[3] Univ Hosp 12 Octubre, Pediat, Primary Immunodeficiencies Unit, Madrid, Spain
[4] Univ Complutense Madrid, Sch Med, Madrid, Spain
来源：
JOURNAL OF PAEDIATRICS AND CHILD HEALTH | 2021年 / 57卷 / 08期
关键词：
D O I：
10.1111/jpc.15148
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
引用
收藏
页码：1305 / 1307
页数：3
相关论文
共 12 条
  • [1] Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia
    Bolar, Nikhita Ajit
    Golzio, Christelle
    Zivna, Martina
    Hayot, Gaelle
    Van Hemelrijk, Christine
    Schepers, Dorien
    Vandeweyer, Geert
    Hoischen, Alexander
    Huyghe, Jeroen R.
    Raes, Ann
    Matthys, Erve
    Sys, Emiel
    Azou, Myriam
    Gubler, Marie-Claire
    Praet, Marleen
    Van Camp, Guy
    McFadden, Kelsey
    Pediaditakis, Igor
    Pristoupilova, Anna
    Hodanova, Katerina
    Vylet'al, Petr
    Hartmannova, Hana
    Stranecky, Viktor
    Hulkova, Helena
    Baresova, Veronika
    Jedlickova, Ivana
    Sovova, Jana
    Hnizda, Ales
    Kidd, Kendrah
    Bleyer, Anthony J.
    Spong, Richard S.
    Vande Walle, Johan
    Mortier, Geert
    Brunner, Han
    Van Laer, Lut
    Kmoch, Stanislav
    Katsanis, Nicholas
    Loeys, Bart L.
    AMERICAN JOURNAL OF HUMAN GENETICS, 2016, 99 (01) : 174 - 187
  • [2] A SEC61A1 variant is associated with autosomal dominant polycystic liver disease
    Schlevogt, Bernhard
    Schlieper, Vincent
    Krader, Jana
    Schroeter, Rita
    Wagner, Thomas
    Weiand, Matthias
    Zibert, Andree
    Schmidt, Hartmut H.
    Bergmann, Carsten
    Nedvetsky, Pavel, I
    Krahn, Michael P.
    LIVER INTERNATIONAL, 2023, 43 (02) : 401 - 412
  • [3] A de novo PKD1 mutation in a Chinese family with autosomal dominant polycystic kidney disease
    Wei, Ting
    Zhang, Bing
    Tang, Wei
    Li, Xin
    Shuai, Zhuang
    Tang, Tao
    Zhang, Yueyang
    Deng, Lin
    Liu, Qingsong
    MEDICINE, 2024, 103 (13) : E27853
  • [4] Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulo-Interstitial Kidney Disease (vol 29, pg 2418, 2018)
    Zivna, M.
    Kidd, K.
    Pristoupilova, P.
    Baresova, V
    DeFelice, M.
    Bleyer, A. J.
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2020, 31 (04): : 892 - 892
  • [5] Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutation: A Two-Case Report and Literature Review
    Liang, Dandan
    Liang, Shaoshan
    Zhang, Mingchao
    Gao, Erzhi
    Zhang, Zhihong
    Jin, Ying
    Xu, Feng
    Zeng, Caihong
    NEPHRON, 2019, 143 (04) : 282 - 287
  • [6] A novel uromodulin mutation in autosomal dominant tubulointerstitial kidney disease: a pedigree-based study and literature review
    Lin, Ziqiang
    Yang, Juan
    Liu, Hong
    Cai, Dan
    An, Zhenmei
    Yu, Yerong
    Chen, Tao
    RENAL FAILURE, 2018, 40 (01) : 146 - 151
  • [7] A patient with pontine autosomal dominant microangiopathy and leukoencephalopathy caused by a de novo 3′ untranslated region mutation of COL4A1 gene: case report and literature review
    Xie, Fei
    Li, Shuang
    Hu, Xingyue
    Li, Wenyu
    NEUROLOGICAL SCIENCES, 2025,
  • [8] Predicted Mutation Strength of Nontruncating PKD1 Mutations Aids Genotype-Phenotype Correlations in Autosomal Dominant Polycystic Kidney Disease
    Heyer, Christina M.
    Sundsbak, Jamie L.
    Abebe, Kaleab Z.
    Chapman, Arlene B.
    Torres, Vicente E.
    Grantham, Jared J.
    Bae, Kyongtae T.
    Schrier, Robert W.
    Perrone, Ronald D.
    Braun, William E.
    Steinman, Theodore I.
    Mrug, Michal
    Yu, Alan S. L.
    Brosnahan, Godela
    Hopp, Katharina
    Irazabal, Maria V.
    Bennett, William M.
    Flessner, Michael F.
    Moore, Charity G.
    Landsittel, Douglas
    Harris, Peter C.
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2016, 27 (09): : 2872 - 2884
  • [9] First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review
    Minale, Elia Marco Paolo
    De Falco, Alessandro
    Agolini, Emanuele
    Novelli, Antonio
    Russo, Roberta
    Andolfo, Immacolata
    Iolascon, Achille
    Piscopo, Carmelo
    GENES, 2024, 15 (01)
  • [10] A novel case of autosomal-dominant cutis laxa caused by a de novo likely pathogenic variant in ALDH18A1: case report and literature review
    Ahmad, Firoz
    Gadgil, Pradnya
    Navandar, Noopur
    Sandal, Sapna
    Kumar, Mukesh
    Shah, Amisha
    Angi, Meenu
    Chaudhary, Pooja
    Jajodia, Ekta
    Vaishnani, Toral
    Banerjee, Anindyajit
    Chaudhary, Spandan
    Arora, Neeraj
    JOURNAL OF HUMAN GENETICS, 2025,
12