Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

被引：0

作者：

Andrew Kirby

Andreas Gnirke

David B Jaffe

Veronika Barešová

Nathalie Pochet

Brendan Blumenstiel

Chun Ye

Daniel Aird

Christine Stevens

James T Robinson

Moran N Cabili

Irit Gat-Viks

Edward Kelliher

Riza Daza

Matthew DeFelice

Helena Hůlková

Jana Sovová

Petr Vylet'al

Corinne Antignac

Mitchell Guttman

Robert E Handsaker

Danielle Perrin

Scott Steelman

Snaevar Sigurdsson

Steven J Scheinman

Carrie Sougnez

Kristian Cibulskis

Melissa Parkin

Todd Green

Elizabeth Rossin

Michael C Zody

Ramnik J Xavier

Martin R Pollak

Seth L Alper

Kerstin Lindblad-Toh

Stacey Gabriel

P Suzanne Hart

Aviv Regev

Chad Nusbaum

Stanislav Kmoch

Anthony J Bleyer

Eric S Lander

Mark J Daly

机构：

[1] Broad Institute of Harvard and MIT,Department of Plant Systems Biology, Department of Plant Biotechnology and Bioinformatics

[2] Analytic and Translational Genetics Unit,Department of Systems Biology

[3] Massachusetts General Hospital,Department of Cell Research and Immunology

[4] Institute of Inherited Metabolic Disorders,Département de Génétique

[5] First Faculty of Medicine,Department of Genetics

[6] Charles University in Prague,Department of Medicine

[7] VIB,Department of Medicine

[8] Ghent University,Department of Medical Biochemistry and Microbiology

[9] Harvard Medical School,undefined

[10] George S. Wise Faculty of Life Sciences,undefined

[11] Tel Aviv University,undefined

[12] Institut National de la Santé et de la Recherche Médicale (INSERM) U983,undefined

[13] Université Paris Descartes,undefined

[14] Sorbonne Paris Cité,undefined

[15] Institut Imagine,undefined

[16] Hôpital Necker–Enfants Malades,undefined

[17] Assistance Publique–Hôpitaux de Paris,undefined

[18] Harvard Medical School,undefined

[19] The Commonwealth Medical College,undefined

[20] Gastrointestinal Unit,undefined

[21] Center for the Study of the Inflammatory Bowel Disease and Center for Computational and Integrative Biology,undefined

[22] Massachusetts General Hospital,undefined

[23] Harvard Medical School,undefined

[24] Beth Israel Deaconess Medical Center,undefined

[25] Harvard Medical School,undefined

[26] Science for Life Laboratory Uppsala,undefined

[27] Uppsala University,undefined

[28] Office of the Clinical Director,undefined

[29] National Human Genome Research Institute,undefined

[30] US National Institutes of Health (NIH),undefined

[31] Section on Nephrology,undefined

[32] Wake Forest School of Medicine,undefined

来源：

Nature Genetics | 2013年 / 45卷

关键词：

D O I：

暂无

中图分类号：

学科分类号：

摘要：

Anthony Bleyer, Eric Lander, Mark Daly and colleagues show that frameshift mutations in a large VNTR of MUC1 cause medullary cystic kidney disease type 1. Their discovery sheds light on the biology of this disease and highlights challenges in using massively parallel sequencing technologies to characterize certain types of sequence variants.

引用

页码：299 / 303

页数：4

共 29 条

[1] Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing
Kirby, Andrew
Gnirke, Andreas
Jaffe, David B.
Baresova, Veronika
Pochet, Nathalie
Blumenstiel, Brendan
Ye, Chun
Aird, Daniel
Stevens, Christine
Robinson, James T.
Cabili, Moran N.
Gat-Viks, Irit
Kelliher, Edward
Daza, Riza
DeFelice, Matthew
Hulkova, Helena
Sovova, Jana
Vylet'al, Petr
Antignac, Corinne
Guttman, Mitchell
Handsaker, Robert E.
Perrin, Danielle
Steelman, Scott
Sigurdsson, Snaevar
Scheinman, Steven J.
Sougnez, Carrie
Cibulskis, Kristian
Parkin, Melissa
Green, Todd
Rossin, Elizabeth
Zody, Michael C.
Xavier, Ramnik J.
Pollak, Martin R.
Alper, Seth L.
Lindblad-Toh, Kerstin
Gabriel, Stacey
Hart, P. Suzanne
Regev, Aviv
Nusbaum, Chad
Kmoch, Stanislav
Bleyer, Anthony J.
Lander, Eric S.
Daly, Mark J.
NATURE GENETICS, 2013, 45 (03) : 299 - 303
[2] Variable Clinical Presentation of an MUC1 Mutation Causing Medullary Cystic Kidney Disease Type 1
Bleyer, Anthony J.
Kmoch, Stanislav
Antignac, Corinne
Robins, Vicki
Kidd, Kendrah
Kelsoe, John R.
Hladik, Gerald
Klemmer, Philip
Knohl, Stephen J.
Scheinman, Steven J.
Nam Vo
Santi, Ann
Harris, Alese
Canaday, Omar
Weller, Nelson
Hulick, Peter J.
Vogel, Kristen
Rahbari-Oskoui, Frederick F.
Tuazon, Jennifer
Deltas, Constantinos
Somers, Douglas
Megarbane, Andre
Kimmel, Paul L.
Sperati, C. John
Orr-Urtreger, Avi
Ben-Shachar, Shay
Waugh, David A.
McGinn, Stella
Bleyer, Anthony J., Jr.
Hodanova, Katerina
Vylet'al, Petr
Zivna, Martina
Hart, Thomas C.
Hart, P. Suzanne
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2014, 9 (03): : 527 - 535
[3] NOVEL MUC1 VARIANT IDENTIFIED BY MASSIVELY PARALLEL SEQUENCING EXPLAINS INTERSTITIAL KIDNEY DISEASE IN A LARGE DUTCH FAMILY
de Haan, Amber
Eijgelsheim, Mark
Rump, Patrick
Van der Zwaag, Bert
Zivna, Martina
Kmoch, Stanislav
Bleyer, Anthony
Kidd, Kendrah
Van Eerde, Albertien M.
Knoers, Nine
De Borst, Martin
NEPHROLOGY DIALYSIS TRANSPLANTATION, 2022, 37 : I16 - I16
[4] Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family
de Haan, Amber
van Eerde, Albertien M.
Eijgelsheim, Mark
Rump, Patrick
van der Zwaag, Bert
Hennekam, Eric
Zivna, Martina
Kmoch, Stanislav
Bleyer, Anthony J.
Kidd, Kendrah
Vogt, Liffert
Knoers, Nine V. A. M.
de Borst, Martin H.
KIDNEY INTERNATIONAL, 2023, 103 (05) : 986 - 989
[5] Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease
Zivna, Martina
Kidd, Kendrah
Pristoupilova, Anna
Baresova, Veronika
DeFelice, Mathew
Blumenstiel, Brendan
Harden, Maegan
Conlon, Peter
Lavin, Peter
Connaughton, Dervla M.
Hartmannova, Hana
Hodanova, Katerina
Stranecky, Viktor
Vrbacka, Alena
Vylet'al, Petr
Zivny, Jan
Votruba, Miroslav
Sovova, Jana
Hulkova, Helena
Robins, Victoria
Perry, Rebecca
Wenzel, Andrea
Beck, Bodo B.
Seeman, Tomas
Viklicky, Ondrej
Rajnochova-Bloudickova, Sylvie
Papagregoriou, Gregory
Deltas, Constantinos C.
Alper, Seth L.
Greka, Anna
Bleyer, Anthony J.
Kmoch, Stanislav
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2018, 29 (09): : 2418 - 2431
[6] Medullary cystic kidney disease type 1 in a large Native-American kindred
Kiser, RL
Wolf, MTF
Martin, JL
Zalewski, I
Attanasio, M
Hildebrandt, F
Klemmer, P
AMERICAN JOURNAL OF KIDNEY DISEASES, 2004, 44 (04) : 611 - 617
[7] The quest for the gene responsible for medullary cystic kidney disease type 1
Bichet, DG
Fujiwara, TM
KIDNEY INTERNATIONAL, 2004, 66 (02) : 864 - 865
[8] Medullary cystic kidney disease with hyperuricemia and gout in a large Cypriot family: No allelism with nephronophthisis type 1
Stavrou, C
Pierides, A
Zouvani, I
Kyriacou, K
Antignac, C
Neophytou, P
Christodoulou, K
Deltas, CC
AMERICAN JOURNAL OF MEDICAL GENETICS, 1998, 77 (02): : 149 - 154
[9] Outcome of kidney transplantation in autosomal dominant medullary cystic kidney disease type 1
Stavrou, C
Deltas, CC
Christophides, TC
Pierides, A
NEPHROLOGY DIALYSIS TRANSPLANTATION, 2003, 18 (10) : 2165 - 2169
[10] Testing for the cytosine insertion in the VNTR of the MUC1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease
Musetti, Claudio
Babu, Deepak
Fusco, Ileana
Mellone, Simona
Zonta, Andrea
Quaglia, Marco
Cantaluppi, Vincenzo
Stratta, Piero
Giordano, Mara
JOURNAL OF NEPHROLOGY, 2016, 29 (03) : 451 - 455

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