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

[1] Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints [J].

Amos-Landgraf, JM ;

Ji, YG ;

Gottlieb, W ;

Depinet, T ;

Wandstrat, AE ;

Cassidy, SB ;

Driscoll, DJ ;

Rogan, PK ;

Schwartz, S ;

Nicholls, RD .

AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (02) :370-386

[2] Characterization of six human disease-associated inversion polymorphisms [J].

Antonacci, Francesca ;

Kidd, Jeffrey M. ;

Marques-Bonet, Tomas ;

Ventura, Mario ;

Siswara, Priscillia ;

Jiang, Zhaoshi ;

Eichler, Evan E. .

HUMAN MOLECULAR GENETICS, 2009, 18 (14) :2555-2566

[3] Recent segmental duplications in the human genome [J].

Bailey, JA ;

Gu, ZP ;

Clark, RA ;

Reinert, K ;

Samonte, RV ;

Schwartz, S ;

Adams, MD ;

Myers, EW ;

Li, PW ;

Eichler, EE .

SCIENCE, 2002, 297 (5583) :1003-1007

[4] The clinical utility of enhanced subtelomeric coverage in array CGH [J].

Ballif, Blake C. ;

Sulpizio, Scott G. ;

Lloyd, Richard M. ;

Minier, Sara L. ;

Theisen, Aaron ;

Bejjani, Bassem A. ;

Shaffer, Lisa G. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (16) :1850-1857

[5] Mutational mechanisms of Williams-Beuren syndrome deletions [J].

Bayés, M ;

Magano, LF ;

Rivera, N ;

Flores, R ;

Jurado, LAP .

AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (01) :131-151

[6] Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome [J].

Bearden, CE ;

Jawad, AF ;

Lynch, DR ;

Sokol, S ;

Kanes, SJ ;

McDonald-McGinn, DM ;

Saitta, SC ;

Harris, SE ;

Moss, E ;

Wang, PP ;

Zackai, E ;

Emanuel, BS ;

Simon, TJ .

AMERICAN JOURNAL OF PSYCHIATRY, 2004, 161 (09) :1700-1702

[7] Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders [J].

Ben-Shachar, S. ;

Lanpher, B. ;

German, J. R. ;

Qasaymeh, M. ;

Potocki, L. ;

Nagamani, S. C. Sreenath ;

Franco, L. M. ;

Malphrus, A. ;

Bottenfield, G. W. ;

Spence, J. E. ;

Amato, S. ;

Rousseau, J. A. ;

Moghaddam, B. ;

Skinner, C. ;

Skinner, S. A. ;

Bernes, S. ;

Armstrong, N. ;

Shinawi, M. ;

Stankiewicz, P. ;

Patel, A. ;

Cheung, S-W ;

Lupski, J. R. ;

Beaudet, A. L. ;

Sahoo, T. .

JOURNAL OF MEDICAL GENETICS, 2009, 46 (06) :382-388

[8] Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2 [J].

Bi, WM ;

Park, SS ;

Shaw, CJ ;

Withers, MA ;

Patel, PI ;

Lupski, JR .

AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (06) :1302-1315

[9] Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals [J].

Bijlsma, E. K. ;

Gijsbers, A. C. J. ;

Schuurs-Hoeijmakers, J. H. M. ;

van Haeringen, A. ;

van de Putte, D. E. Fransen ;

Anderlid, B. -M. ;

Lundin, J. ;

Lapunzina, P. ;

Perez Jurado, L. A. ;

Delle Chiaie, B. ;

Loeys, B. ;

Menten, B. ;

Oostra, A. ;

Verhelst, H. ;

Amor, D. J. ;

Bruno, D. L. ;

van Essen, A. J. ;

Hordijk, R. ;

Sikkema-Raddatz, B. ;

Verbruggen, K. T. ;

Jongmans, M. C. J. ;

Pfundt, R. ;

Reeser, H. M. ;

Breuning, M. H. ;

Ruivenkamp, C. A. L. .

EUROPEAN JOURNAL OF MEDICAL GENETICS, 2009, 52 (2-3) :77-87

[10] NDE1 and NDEL1: Multimerisation, alternate splicing and DISC1 interaction [J].

Bradshaw, Nicholas J. ;

Christie, Sheila ;

Soares, Dinesh C. ;

Carlyle, Becky C. ;

Porteous, David J. ;

Millar, J. Kirsty .

NEUROSCIENCE LETTERS, 2009, 449 (03) :228-233

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