A patient with de novo 0.45Mb deletion of 2p16.1: The role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome

被引：32

作者：

Hancarova, Miroslava ^{[1
,2
]}

Simandlova, Martina ^{[1
,2
]}

Drabova, Jana ^{[1
,2
]}

Mannik, Katrin ^{[3
]}

Kurg, Ants ^{[3
]}

Sedlacek, Zdenek ^{[1
,2
]}

机构：

[1] Charles Univ Prague, Fac Med 2, Dept Biol & Med Genet, Prague 15000 5, Czech Republic

[2] Univ Hosp Motol, Prague, Czech Republic

[3] Univ Tartu, Inst Mol & Cell Biol, EE-50090 Tartu, Estonia

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2013年 / 161A卷 / 04期

关键词：

2p15-p16; 1 microdeletion syndrome; autism; copy number variation; developmental delay; intellectual disability; SNP array; COPY NUMBER; PHENOTYPE; VARIANTS; FAMILY; REGION; GENES; MAP;

D O I：

10.1002/ajmg.a.35783

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The 2p15-p16.1 microdeletion syndrome is a novel, rare disorder characterized by developmental delay, intellectual disability, microcephaly, growth retardation, facial abnormalities, and other medical problems. We report here on an 11-year-old female showing clinical features consistent with the syndrome and carrying a de novo 0.45Mb long deletion of the paternally derived 2p16.1 allele. The deleted region contains only three protein-coding RefSeq genes, BCL11A, PAPOLG, and REL, and one long non-coding RNA gene FLJ16341. Based on close phenotypic similarities with six reported patients showing typical clinical features of the syndrome, we propose that the critical region can be narrowed down further, and that these brain expressed genes can be considered candidates for the features seen in this microdeletion syndrome. (c) 2013 Wiley Periodicals, Inc.

引用

页码：865 / 870

页数：6

共 27 条

[1] c-Rel, an NF-κB family transcription factor, is required for hippocampal long-term synaptic plasticity and memory formation [J].

Ahn, Hyung Jin ;

Hernandez, Caterina M. ;

Levenson, Jonathan M. ;

Lubin, Farah D. ;

Liou, Hsiou-Chi ;

Sweatt, J. David .

LEARNING & MEMORY, 2008, 15 (07) :539-549

[2] THE V-REL ONCOGENE ENCODES A KAPPA-B ENHANCER BINDING-PROTEIN THAT INHIBITS NF-KAPPA-B FUNCTION [J].

BALLARD, DW ;

WALKER, WH ;

DOERRE, S ;

SISTA, P ;

MOLITOR, JA ;

DIXON, EP ;

PEFFER, NJ ;

HANNINK, M ;

GREENE, WC .

CELL, 1990, 63 (04) :803-814

[3] Normalization and subtraction: Two approaches to facilitate gene discovery [J].

Bonaldo, MDF ;

Lennon, G ;

Soares, MB .

GENOME RESEARCH, 1996, 6 (09) :791-806

[4] The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570 kb region in 2p15 [J].

Chabchoub, E. ;

Vermeesch, J. R. ;

de Ravel, T. ;

de Cock, P. ;

Fryns, J-P .

JOURNAL OF MEDICAL GENETICS, 2008, 45 (03) :189-192

[5] QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data [J].

Colella, Stefano ;

Yau, Christopher ;

Taylor, Jennifer M. ;

Mirza, Ghazala ;

Butler, Helen ;

Clouston, Penny ;

Bassett, Anne S. ;

Seller, Anneke ;

Holmes, Christopher C. ;

Ragoussis, Jiannis .

NUCLEIC ACIDS RESEARCH, 2007, 35 (06) :2013-2025

[6] A copy number variation morbidity map of developmental delay [J].

Cooper, Gregory M. ;

Coe, Bradley P. ;

Girirajan, Santhosh ;

Rosenfeld, Jill A. ;

Vu, Tiffany H. ;

Baker, Carl ;

Williams, Charles ;

Stalker, Heather ;

Hamid, Rizwan ;

Hannig, Vickie ;

Abdel-Hamid, Hoda ;

Bader, Patricia ;

McCracken, Elizabeth ;

Niyazov, Dmitriy ;

Leppig, Kathleen ;

Thiese, Heidi ;

Hummel, Marybeth ;

Alexander, Nora ;

Gorski, Jerome ;

Kussmann, Jennifer ;

Shashi, Vandana ;

Johnson, Krys ;

Rehder, Catherine ;

Ballif, Blake C. ;

Shaffer, Lisa G. ;

Eichler, Evan E. .

NATURE GENETICS, 2011, 43 (09) :838-U44

[7] A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis [J].

De Leeuw, N. ;

Pfundt, R. ;

Koolen, D. A. ;

Neefs, I. ;

Scheltinga, I. ;

Mieloo, H. ;

Sistermans, E. A. ;

Nillesen, W. ;

Smeets, D. F. ;

de Vries, B. B. A. ;

Knoers, N. V. A. M. .

JOURNAL OF MEDICAL GENETICS, 2008, 45 (02) :122-124

[8] Further Characterization of Microdeletion Syndrome Involving 2p15-p16.1 [J].

Felix, Temis Maria ;

Petrin, Aline Lourenco ;

Vieira Sanseverino, Maria Teresa ;

Murray, Jeffrey C. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (10) :2604-2608

[9] DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources [J].

Firth, Helen V. ;

Richards, Shola M. ;

Bevan, A. Paul ;

Clayton, Stephen ;

Corpas, Manuel ;

Rajan, Diana ;

Van Vooren, Steven ;

Moreau, Yves ;

Pettett, Roger M. ;

Carter, Nigel P. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 84 (04) :524-533

[10] An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities [J].

Kaminsky, Erin B. ;

Kaul, Vineith ;

Paschall, Justin ;

Church, Deanna M. ;

Bunke, Brian ;

Kunig, Dawn ;

Moreno-De-Luca, Daniel ;

Moreno-De-Luca, Andres ;

Mulle, Jennifer G. ;

Warren, Stephen T. ;

Richard, Gabriele ;

Compton, John G. ;

Fuller, Amy E. ;

Gliem, Troy J. ;

Huang, Shuwen ;

Collinson, Morag N. ;

Beal, Sarah J. ;

Ackley, Todd ;

Pickering, Diane L. ;

Golden, Denae M. ;

Aston, Emily ;

Whitby, Heidi ;

Shetty, Shashirekha ;

Rossi, Michael R. ;

Rudd, M. Katharine ;

South, Sarah T. ;

Brothman, Arthur R. ;

Sanger, Warren G. ;

Iyer, Ramaswamy K. ;

Crolla, John A. ;

Thorland, Erik C. ;

Aradhya, Swaroop ;

Ledbetter, David H. ;

Martin, Christa L. .

GENETICS IN MEDICINE, 2011, 13 (09) :777-784

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