Novel PKD1 Mutations in Patients with Autosomal Dominant Polycystic Kidney Disease

被引：5
作者：
Kim, Hyerin [1 ,2 ]
Kim, Hyung-Hoi [1 ,2 ]
Chang, Chulhun L. [3 ]
Song, Sang Heon [2 ,4 ]
Kim, Namhee [2 ,5 ]
机构：
[1] Pusan Natl Univ Hosp, Dept Lab Med, Busan, South Korea
[2] Pusan Natl Univ Hosp, Biomed Res Inst, Busan, South Korea
[3] Pusan Natl Univ, Dept Lab Med, Yangsan Hosp, Yangsan, South Korea
[4] Pusan Natl Univ Hosp, Dept Internal Med, Div Nephrol, Busan, South Korea
[5] Dong A Univ, Dept Lab Med, Coll Med, Busan, South Korea
来源：
LABORATORY MEDICINE | 2021年 / 52卷 / 02期
关键词：
Polycystic kidney disease; Sequence analysis; PKD1; PKD2; MOLECULAR DIAGNOSTICS; KOREAN PATIENTS; IDENTIFICATION; GENE; CRITERIA; ADPKD;
D O I：
10.1093/labmed/lmaa047
中图分类号：
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号：
1001 ;
摘要：
Objective: Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic kidney disease. Identifying mutated causative genes can provide diagnostic and prognostic information. In this study, we describe the clinical application of a next generation sequencing (NGS)-based, targeted multi-gene panel test for the genetic diagnosis of patients with ADPKD. Methods: We applied genetic analysis on 26 unrelated known or suspected patients with ADPKD. A total of 10 genes related to cystic change of kidney were targeted. Detected variants were classified according to standard guidelines. Results: We identified 19 variants (detection rate: 73.1%), including PKD1 (n = 18) and PKD2 (n = 1). Of the 18 PKD1 variants, 8 were novel. Conclusion: Multigene panel test can be a comprehensive tool in a clinical setting for genetic diagnosis of ADPKD. It allows us to identify clinically significant novel variants and confirm the diagnosis, and these objectives are difficult to achieve using conventional diagnostic tools.
引用
收藏
页码：174 / 180
页数：7
相关论文
共 37 条
  • [1] Alves M, 2015, POLYCYSTIC KIDNEY DISEASE, P3
  • [2] Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease
    Audrezet, Marie-Pierre
    Corbiere, Christine
    Lebbah, Said
    Moriniere, Vincent
    Broux, Francoise
    Louillet, Ferielle
    Fischbach, Michel
    Zaloszyc, Ariane
    Cloarec, Sylvie
    Merieau, Elodie
    Baudouin, Veronique
    Deschenes, Georges
    Roussey, Gwenaelle
    Maestri, Sandrine
    Visconti, Chiara
    Boyer, Olivia
    Abel, Carine
    Lahoche, Annie
    Randrianaivo, Hanitra
    Besenay, Lucie
    Mekahli, Djalila
    Ouertani, Ines
    Decramer, Stephane
    Ryckenwaert, Amelie
    Cornec-Le Gall, Emilie
    Salomon, Remi
    Ferec, Claude
    Heidet, Laurence
    [J]. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2016, 27 (03): : 722 - 729
  • [3] Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients
    Audrezet, Marie-Pierre
    Cornec-Le Gall, Emilie
    Chen, Jian-Min
    Redon, Sylvia
    Quere, Isabelle
    Creff, Joelle
    Benech, Caroline
    Maestri, Sandrine
    Le Meur, Yann
    Ferec, Claude
    [J]. HUMAN MUTATION, 2012, 33 (08) : 1239 - 1250
  • [4] Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease
    Bergmann, Carsten
    von Bothmer, Jennifer
    Bruechle, Nadina Ortiz
    Venghaus, Andreas
    Frank, Valeska
    Fehrenbach, Henry
    Hampel, Tobias
    Pape, Lars
    Buske, Annegret
    Jonsson, Jon
    Sarioglu, Nanette
    Santos, Antonia
    Ferreira, Jose Carlos
    Becker, Jan U.
    Cremer, Reinhold
    Hoefele, Julia
    Benz, Marcus R.
    Weber, Lutz T.
    Buettner, Reinhard
    Zerres, Klaus
    [J]. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2011, 22 (11): : 2047 - 2056
  • [5] Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease
    Chang, Ming-Yang
    Chen, Hsiao-Mang
    Jenq, Chang-Chyi
    Lee, Shen-Yang
    Chen, Yu-Ming
    Tian, Ya-Chung
    Chen, Yung-Chang
    Hung, Cheng-Chieh
    Fang, Ji-Tseng
    Yang, Chih-Wei
    Wu-Chou, Yah-Huei
    [J]. JOURNAL OF HUMAN GENETICS, 2013, 58 (11) : 720 - 727
  • [6] Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
    Chapman, Arlene B.
    Devuyst, Olivier
    Eckardt, Kai-Uwe
    Gansevoort, Ron T.
    Harris, Tess
    Horie, Shigeo
    Kasiske, Bertram L.
    Odland, Dwight
    Pei, York
    Perrone, Ronald D.
    Pirson, Yves
    Schrier, Robert W.
    Torra, Roser
    Torres, Vicente E.
    Watnick, Terry
    Wheeler, David C.
    [J]. KIDNEY INTERNATIONAL, 2015, 88 (01) : 17 - 27
  • [7] Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease
    Choi, Rihwa
    Park, Hayne Cho
    Lee, Kyunghoon
    Lee, Myoung-Gun
    Kim, Jong-Won
    Ki, Chang-Seok
    Hwang, Young-Hwan
    Ahn, Curie
    [J]. BMC MEDICAL GENETICS, 2014, 15
  • [8] Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome
    Consugar, Mark B.
    Wong, Wai C.
    Lundquist, Patrick A.
    Rossetti, Sandro
    Kubly, Vickie J.
    Walker, Denise L.
    Rangel, Laureano J.
    Aspinwall, Richard
    Niaudet, W. Patrick
    Ozen, Seza
    David, Albert
    Velinov, Milen
    Bergstralh, Eric J.
    Bae, Kyongtae T.
    Chapman, Arlene B.
    Guay-Woodford, Lisa M.
    Grantham, Jared J.
    Torres, Vicente E.
    Sampson, Julian R.
    Dawson, Brian D.
    Harris, Peter C.
    [J]. KIDNEY INTERNATIONAL, 2008, 74 (11) : 1468 - 1479
  • [9] Autosomal dominant polycystic kidney disease
    Cornec-Le Gall, Emilie
    Alam, Ahsan
    Perrone, Ronald D.
    [J]. LANCET, 2019, 393 (10174) : 919 - 935
  • [10] An Efficient and Comprehensive Strategy for Genetic Diagnostics of Polycystic Kidney Disease
    Eisenberger, Tobias
    Decker, Christian
    Hiersche, Milan
    Hamann, Ruben C.
    Decker, Eva
    Neuber, Steffen
    Frank, Valeska
    Bolz, Hanno J.
    Fehrenbach, Henry
    Pape, Lars
    Toenshoff, Burkhard
    Mache, Christoph
    Latta, Kay
    Bergmann, Carsten
    [J]. PLOS ONE, 2015, 10 (02):
1234