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

页码：174 / 180

页数：7

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 [J].

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 .

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 [J].

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 .

HUMAN MUTATION, 2012, 33 (08) :1239-1250

[4] Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease [J].

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 .

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 [J].

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 .

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 [J].

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. .

KIDNEY INTERNATIONAL, 2015, 88 (01) :17-27

[7] Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease [J].

Choi, Rihwa ;

Park, Hayne Cho ;

Lee, Kyunghoon ;

Lee, Myoung-Gun ;

Kim, Jong-Won ;

Ki, Chang-Seok ;

Hwang, Young-Hwan ;

Ahn, Curie .

BMC MEDICAL GENETICS, 2014, 15

[8] Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome [J].

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. .

KIDNEY INTERNATIONAL, 2008, 74 (11) :1468-1479

[9] Autosomal dominant polycystic kidney disease [J].

Cornec-Le Gall, Emilie ;

Alam, Ahsan ;

Perrone, Ronald D. .

LANCET, 2019, 393 (10174) :919-935

[10] An Efficient and Comprehensive Strategy for Genetic Diagnostics of Polycystic Kidney Disease [J].

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 .

PLOS ONE, 2015, 10 (02)

← 1 2 3 4 →