Unrevealed mosaicism in the next-generation sequencing era

被引：101

作者：

Gajecka, Marzena ^{[1
,2
]}

机构：

[1] Poznan Univ Med Sci, Dept Genet & Pharmaceut Microbiol, Swiecickiego 4, PL-60781 Poznan, Poland

[2] Polish Acad Sci, Inst Human Genet, Strzeszynska 32, PL-60479 Poznan, Poland

来源：

MOLECULAR GENETICS AND GENOMICS | 2016年 / 291卷 / 02期

关键词：

Mosaicism; Mosaic ratio; Germline; Somatic; Constitutional; NGS; COPY-NUMBER VARIATION; SOMATIC MOSAICISM; CHROMOSOMAL MOSAICISM; COMPLEX REARRANGEMENT; REVERTANT MOSAICISM; GERMLINE MOSAICISM; RECURRENCE RISK; MUTATIONS; CELL; MECHANISMS;

D O I：

10.1007/s00438-015-1130-7

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Mosaicism refers to the presence in an individual of normal and abnormal cells that are genotypically distinct and are derived from a single zygote. The incidence of mosaicism events in the human body is underestimated as the genotypes in the mosaic ratio, especially in the low-grade mosaicism, stay unrevealed. This review summarizes various research outcomes and diagnostic questions in relation to different types of mosaicism. The impact of both tested biological material and applied method on the mosaicism detection rate is especially highlighted. As next-generation sequencing technologies constitute a promising methodological solution in mosaicism detection in the coming years, revisions in current diagnostic protocols are necessary to increase the detection rate of the unrevealed mosaicism events. Since mosaicism identification is a complex process, numerous examples of multistep mosaicism investigations are presented and discussed.

引用

页码：513 / 530

页数：18

共 66 条

[1] Detection of low-level mosaicism by array CGH in routine diagnostic specimens [J].

Balliff, Blake C. ;

Rorem, Emily A. ;

Sundin, Kyle ;

Lincicum, Matt ;

Gaskin, Shannon ;

Coppinger, Justine ;

Kashork, Catherine D. ;

Shaffer, Lisa G. ;

Bejjani, Bassem A. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (24) :2757-2767

[2] Sensitive and specific detection of mosaic chromosomal abnormalities using the Parent-of-Origin-based Detection (POD) method [J].

Baugher, Joseph D. ;

Baugher, Benjamin D. ;

Shirley, Matthew D. ;

Pevsner, Jonathan .

BMC GENOMICS, 2013, 14

[3] Mosaic Epigenetic Dysregulation of Ectodermal Cells in Autism Spectrum Disorder [J].

Berko, Esther R. ;

Suzuki, Masako ;

Beren, Faygel ;

Lemetre, Christophe ;

Alaimo, Christine M. ;

Calder, R. Brent ;

Ballaban-Gil, Karen ;

Gounder, Batya ;

Kampf, Kaylee ;

Kirschen, Jill ;

Maqbool, Shahina B. ;

Momin, Zeineen ;

Reynolds, David M. ;

Russo, Natalie ;

Shulman, Lisa ;

Stasiek, Edyta ;

Tozour, Jessica ;

Valicenti-McDermott, Maria ;

Wang, Shenglong ;

Abrahams, Brett S. ;

Hargitai, Joseph ;

Inbar, Dov ;

Zhang, Zhengdong ;

Buxbaum, Joseph D. ;

Molholm, Sophie ;

Foxe, John J. ;

Marion, Robert W. ;

Auton, Adam ;

Greally, John M. .

PLOS GENETICS, 2014, 10 (05)

[4] Chromosomal mosaicism throughout human preimplantation development in vitro:: incidence, type, and relevance to embryo outcome [J].

Bielanska, M ;

Tan, SL ;

Ao, A .

HUMAN REPRODUCTION, 2002, 17 (02) :413-419

[5] Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics [J].

Braunholz, Diana ;

Obieglo, Carolin ;

Parenti, Ilaria ;

Pozojevic, Jelena ;

Eckhold, Juliane ;

Reiz, Benedikt ;

Braenne, Ingrid ;

Wendt, Kerstin S. ;

Watrin, Erwan ;

Vodopiutz, Julia ;

Rieder, Harald ;

Gillessen-Kaesbach, Gabriele ;

Kaiser, Frank J. .

HUMAN MUTATION, 2015, 36 (01) :26-29

[6] Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles [J].

Bruder, Carl E. G. ;

Piotrowski, Arkadiusz ;

Gijsbers, Antoinet A. C. J. ;

Andersson, Robin ;

Erickson, Stephen ;

de Stahl, Teresita Diaz ;

Menzel, Uwe ;

Sandgren, Johanna ;

von Tell, Desiree ;

Poplawski, Andrzej ;

Crowley, Michael ;

Crasto, Chiquito ;

Partridge, E. Christopher ;

Tiwari, Hemant ;

Allison, David B. ;

Komorowski, Jan ;

van Ommen, Gert-Jan B. ;

Boomsma, Dorret I. ;

Pedersen, Nancy L. ;

den Dunnen, Johan T. ;

Wirdefeldt, Karin ;

Dumanski, Jan P. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (03) :763-771

[7] Single-Cell, Genome-wide Sequencing Identifies Clonal Somatic Copy-Number Variation in the Human Brain [J].

Cai, Xuyu ;

Evrony, Gilad D. ;

Lehmann, Hillel S. ;

Elhosary, Princess C. ;

Mehta, Bhaven K. ;

Poduri, Annapurna ;

Walsh, Christopher A. .

CELL REPORTS, 2014, 8 (05) :1280-1289

[8] Parent of Origin, Mosaicism, and Recurrence Risk: Probabilistic Modeling Explains the Broken Symmetry of Transmission Genetics [J].

Campbell, Ian M. ;

Stewart, Jonathan R. ;

James, Regis A. ;

Lupski, James R. ;

Stankiewicz, Pawel ;

Olofsson, Peter ;

Shaw, Chad A. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2014, 95 (04) :345-359

[9] Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders [J].

Campbell, Ian M. ;

Yuan, Bo ;

Robberecht, Caroline ;

Pfundt, Rolph ;

Szafranski, Przemyslaw ;

McEntagart, Meriel E. ;

Nagamani, Sandesh C. S. ;

Erez, Ayelet ;

Bartnik, Magdalena ;

Wisniowiecka-Kowanik, Barbara ;

Plunkett, Katie S. ;

Pursley, Amber N. ;

Kang, Sung-Hae L. ;

Bi, Weimin ;

Lalani, Seema R. ;

Bacino, Carlos A. ;

Vast, Mala ;

Marks, Karen ;

Patton, Michael ;

Olofsson, Peter ;

Patel, Ankita ;

Veltman, Joris A. ;

Cheung, Sau Wai ;

Shaw, Chad A. ;

Vissers, Lisenka E. L. M. ;

Vermeesch, Joris R. ;

Lupski, James R. ;

Stankiewicz, Pawel .

AMERICAN JOURNAL OF HUMAN GENETICS, 2014, 95 (02) :173-182

[10] Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics [J].

Cheung, Sau W. ;

Shaw, Chad A. ;

Scott, Daryl A. ;

Patel, Ankita ;

Sahoo, Trilochan ;

Bacino, Carlos A. ;

Pursley, Amber ;

Li, Jiangzhen ;

Erickson, Robert ;

Gropman, Andrea L. ;

Miller, David T. ;

Seashore, Margretta R. ;

Summers, Anne M. ;

Stankiewicz, Pawel ;

Chinault, A. Craig ;

Lupski, James R. ;

Beaudet, Arthur L. ;

Sutton, V. Reid .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (15) :1679-1686

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