Genotype to phenotype-discovery and characterization of novel genomic disorders in a "genotype-first" era

被引：35

作者：

Mefford, Heather C. ^{[1
]}

机构：

[1] Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA

来源：

GENETICS IN MEDICINE | 2009年 / 11卷 / 12期

关键词：

Genomic disorder; array comparative genomic hybridization; phenotypic diversity; microdeletion syndrome; CONGENITAL HEART-DISEASE; COPY-NUMBER VARIATION; IDIOPATHIC GENERALIZED EPILEPSY; 17Q21.31 MICRODELETION SYNDROME; 22Q11.2 DELETION SYNDROME; CONTIGUOUS GENE DELETION; WILLIAMS-BEUREN-SYNDROME; MENTAL-RETARDATION; ARRAY-CGH; CHROMOSOMAL REARRANGEMENTS;

D O I：

10.1097/GIM.0b013e3181c175d2

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Recent advances in technology for detecting copy number changes have enabled genome-wide detection of submicroscopic deletions and duplications. As these technologies are applied to large cohorts of patients with diverse phenotypes, novel genomic disorders are defined by a common genotype (deletion or duplication) rather than a common phenotype. The discovery of new genomic disorders using this "genotype-first" approach has increased dramatically, and several recently described recurrent rearrangements are associated with a surprisingly wide range of phenotypes. This review will discuss the importance of genomic architecture for generating recurrent rearrangements, implications of the genotype-first approach for medical genetics, and features of several new genomic disorders with highly variable phenotypes. Genet Med 2009:11(12):836-842.

引用

页码：836 / 842

页数：7

共 109 条

[31] High incidence of cardiac malformations in connexin40-deficient mice [J].

Gu, H ;

Smith, FC ;

Taffet, SM ;

Delmar, M .

CIRCULATION RESEARCH, 2003, 93 (03) :201-206

[32] CNV and nervous system diseases - what's new? [J].

Gu, W. ;

Lupski, J. R. .

CYTOGENETIC AND GENOME RESEARCH, 2008, 123 (1-4) :54-64

[33] Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant [J].

Hannes, F. D. ;

Sharp, A. J. ;

Mefford, H. C. ;

de Ravel, T. ;

Ruivenkamp, C. A. ;

Breuning, M. H. ;

Fryns, J-P ;

Devriendt, K. ;

Van Buggenhout, G. ;

Vogels, A. ;

Stewart, H. ;

Hennekam, R. C. ;

Cooper, G. M. ;

Regan, R. ;

Knight, S. J. L. ;

Eichler, E. E. ;

Vermeesch, J. R. .

JOURNAL OF MEDICAL GENETICS, 2009, 46 (04) :223-232

[34] 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy [J].

Helbig, Ingo ;

Mefford, Heather C. ;

Sharp, Andrew J. ;

Guipponi, Michel ;

Fichera, Marco ;

Franke, Andre ;

Muhle, Hiltrud ;

de Kovel, Carolien ;

Baker, Carl ;

von Spiczak, Sarah ;

Kron, Katherine L. ;

Steinich, Ines ;

Kleefuss-Lie, Ailing A. ;

Leu, Costin ;

Gaus, Verena ;

Schmitz, Bettina ;

Klein, Karl M. ;

Reif, Philipp S. ;

Rosenow, Felix ;

Weber, Yvonne ;

Lerche, Holger ;

Zimprich, Fritz ;

Urak, Lydia ;

Fuchs, Karoline ;

Feucht, Martha ;

Genton, Pierre ;

Thomas, Pierre ;

Visscher, Frank ;

de Haan, Gerrit-Jan ;

Moller, Rikke S. ;

Hjalgrim, Helle ;

Luciano, Daniela ;

Wittig, Michael ;

Nothnagel, Michael ;

Elger, Christian E. ;

Nuernberg, Peter ;

Romano, Corrado ;

Malafosse, Alain ;

Koeleman, Bobby P. C. ;

Lindhout, Dick ;

Stephani, Ulrich ;

Schreiber, Stefan ;

Eichler, Evan E. ;

Sander, Thomas .

NATURE GENETICS, 2009, 41 (02) :160-162

[35] Detection of large-scale variation in the human genome [J].

Iafrate, AJ ;

Feuk, L ;

Rivera, MN ;

Listewnik, ML ;

Donahoe, PK ;

Qi, Y ;

Scherer, SW ;

Lee, C .

NATURE GENETICS, 2004, 36 (09) :949-951

[36] Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease [J].

Itsara, Andy ;

Cooper, Gregory M. ;

Baker, Carl ;

Girirajan, Santhosh ;

Li, Jun ;

Absher, Devin ;

Krauss, Ronald M. ;

Myers, Richard M. ;

Ridker, Paul M. ;

Chasman, Daniel I. ;

Mefford, Heather ;

Ying, Phyllis ;

Nickerson, Deborah A. ;

Eichler, Evan E. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 84 (02) :148-161

[37] High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation [J].

Jehee, F. S. ;

Krepischi-Santos, A. C. V. ;

Rocha, K. M. ;

Cavalcanti, D. P. ;

Kim, C. A. ;

Bertola, D. R. ;

Alonso, L. G. ;

D'Angelo, C. S. ;

Mazzeu, J. F. ;

Froyen, G. ;

Lugtenberg, D. ;

Vianna-Morgante, A. M. ;

Rosenberg, C. ;

Passos-Bueno, M. R. .

JOURNAL OF MEDICAL GENETICS, 2008, 45 (07) :447-450

[38]

Jurado LAP, 1996, AM J HUM GENET, V59, P781

[39] Mapping and sequencing of structural variation from eight human genomes (Reprinted from Nature, vol 453, pg 56-64, 2008) [J].

Kidd, Jeffrey M. ;

Cooper, Gregory M. ;

Donahue, William F. ;

Hayden, Hillary S. ;

Sampas, Nick ;

Graves, Tina ;

Hansen, Nancy ;

Teague, Brian ;

Alkan, Can ;

Antonacci, Francesca ;

Haugen, Eric ;

Zerr, Troy ;

Yamada, N. Alice ;

Tsang, Peter ;

Newman, Tera L. ;

Tuzun, Eray ;

Cheng, Ze ;

Ebling, Heather M. ;

Tusneem, Nadeem ;

David, Robert ;

Gillett, Will ;

Phelps, Karen A. ;

Weaver, Molly ;

Saranga, David ;

Brand, Adrianne ;

Tao, Wei ;

Gustafson, Erik ;

McKernan, Kevin ;

Chen, Lin ;

Malig, Maika ;

Smith, Joshua D. ;

Korn, Joshua M. ;

McCarroll, Steven A. ;

Altshuler, David A. ;

Peiffer, Daniel A. ;

Dorschner, Michael ;

Stamatoyannopoulos, John ;

Schwartz, David ;

Nickerson, Deborah A. ;

Mullikin, James C. ;

Wilson, Richard K. ;

Bruhn, Laurakay ;

Olson, Maynard V. ;

Kaul, Rajinder ;

Smith, Douglas R. ;

Eichler, Evan E. .

NATURE GENETICS, 2009, :S22-S30

[40] Support for the involvement of large copy number variants in the pathogenesis of schizophrenia [J].

Kirov, George ;

Grozeva, Detelina ;

Norton, Nadine ;

Ivanov, Dobril ;

Mantripragada, Kiran K. ;

Holmans, Peter ;

Craddock, Nick ;

Owen, Michael J. ;

O'Donovan, Michael C. .

HUMAN MOLECULAR GENETICS, 2009, 18 (08) :1497-1503

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