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

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Wolf, Matthias T. F.
Mucha, Bettina E.
Hennies, Hans C.
Attanasio, Massimo
Panther, Franziska
Zalewski, Isabella
Karle, Stephanie M.
Otto, Edgar A.
Deltas, C. Constantinou
Fuchshuber, Arno
Hildebrandt, Friedhelm
HUMAN GENETICS, 2006, 119 (06) : 649 - 658
[22] Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing
Matthias T. F. Wolf
Bettina E. Mucha
Hans C. Hennies
Massimo Attanasio
Franziska Panther
Isabella Zalewski
Stephanie M. Karle
Edgar A. Otto
C. Constantinou Deltas
Arno Fuchshuber
Friedhelm Hildebrandt
Human Genetics, 2006, 119 : 649 - 658
[23] Characterization and Regulation of the Disease-Causing Mucin 1 Frameshift Protein in Patient-Derived Cells Affected by Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD)-MUC1
Schwarz, Hannah
Knaup, Karl Xaver
Wopperer, Florian Josef
Schiffer, Mario
Buettner, Maike Julia
Amann, Kerstin U.
Wiesener, Michael Sean
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2024, 35 (10):
[24] Novel NPR1 polymorphic variants and its exclusion as a candidate gene for medullary cystic kidney disease (ADMCKD) type 1
Koptides, M
Mean, R
Stavrou, C
Pierides, A
Demetriou, K
Nakayama, T
Hildebrandt, F
Fuchshuber, A
Deltas, CC
MOLECULAR AND CELLULAR PROBES, 2001, 15 (06) : 357 - 361
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Kidd, Kendrah O.
Williams, Adrienne H.
Taylor, Abbigail
Martin, Lauren
Robins, Victoria
Sayer, John A.
Olinger, Eric
Mabillard, Holly R.
Papagregoriou, Gregory
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Hogan, Richard Edmund
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Pohludka, Michal
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Bleyer Sr, Anthony J.
BMC NEPHROLOGY, 2024, 25 (01)
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Deltas, CC
KIDNEY INTERNATIONAL, 2002, 62 (05) : 1920 - 1920
[28] High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets
Wassif, Christopher A.
Cross, Joanna L.
Iben, James
Sanchez-Pulido, Luis
Cougnoux, Antony
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GENETICS IN MEDICINE, 2016, 18 (01) : 41 - 48
[29] Mutations in glucokinase and other genes detected in neonatal and type 1B diabetes patient using whole exome sequencing may lead to disease-causing changes in protein activity
Lin, Dao-Chen
Huang, Chi-Yu
Ting, Wei-Hsin
Lo, Fu-Sung
Lin, Chiung-Ling
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