Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series

被引：22

作者：

Jaillard, Sylvie ^{[1
,2
]}

Drunat, Severine ^{[3
]}

Bendavid, Claude ^{[2
]}

Aboura, Azzedine ^{[3
]}

Etcheverry, Amandine ^{[2
]}

Journel, Hubert ^{[4
]}

Delahaye, Andree ^{[5
]}

Pasquier, Laurent ^{[2
,6
]}

Bonneau, Dominique ^{[7
]}

Toutain, Annick ^{[8
]}

Burglen, Lydie ^{[9
]}

Guichet, Agnes ^{[7
]}

Pipiras, Eva ^{[5
]}

Gilbert-Dussardier, Brigitte ^{[10
]}

Benzacken, Brigitte ^{[3
,5
]}

Martin-Coignard, Dominique ^{[11
]}

Henry, Catherine ^{[1
]}

David, Albert ^{[12
]}

Lucas, Josette ^{[1
]}

Mosser, Jean ^{[2
]}

David, Veronique ^{[2
,13
]}

Odent, Sylvie ^{[2
,6
]}

Verloes, Alain ^{[3
]}

Dubourg, Christele ^{[2
,13
]}

机构：

[1] CHU Pontchaillou, Lab Cytogenet & Biol Cellulaire, Rennes, France

[2] Univ Rennes 1, CNRS UMR 6061, IFR GFAS 140, Fac Med, F-35014 Rennes, France

[3] CHU Robert Debre, Dept Genet, INSERM U676, APHP, Paris, France

[4] CHBA, Serv Genet Med, Vannes, France

[5] CHU Jean Verdier, Lab Cytogenet, SMBH, APHP,Gressens U676, Bondy, France

[6] CHU Hop Sud, Serv Genet Med, Rennes, France

[7] CHU Angers, Serv Genet, Angers, France

[8] CHU Bretonneau, Serv Genet, F-37044 Tours, France

[9] CHU Armand Trousseau, Serv Genet & Embryol Med, APHP, Paris, France

[10] CHU Poitiers, Serv Genet Med, Poitiers, France

[11] CH Le Mans, Serv Genet, Le Mans, France

[12] CHU Hotel Dieu, Serv Genet Med, Inst Biol, Nantes, France

[13] CHU Pontchaillou, Genet Mol Lab, Rennes, France

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2010年 / 53卷 / 02期

关键词：

Array-CGH; Novel syndromes; Microdeletion; Mental retardation; COMPARATIVE GENOMIC HYBRIDIZATION; CAT-EYE SYNDROME; MICRODELETION SYNDROME; TRANSCRIPTION FACTOR; SUBTELOMERIC REARRANGEMENTS; MOLECULAR CHARACTERIZATION; DYSMORPHIC FEATURES; MICROARRAY ANALYSIS; PROXIMAL; 22Q; CLEFT-PALATE;

D O I：

10.1016/j.ejmg.2009.10.002

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Array-CGH has revealed a large number of copy number variations (CNVs) in patients with multiple congenital anomalies and/or mental retardation (MCA/MR). According to criteria recently listed, pathogenicity was clearly suspected for some CNVs but benign CNVs, considered as polymorphisms, have complicated the interpretation of the results. In this study, genomic DNAs from 132 French patients with unexplained mental retardation were analysed by genome wide high-resolution Agilent (R) 44K oligonucleotide arrays. The results were in accordance with those observed in previous studies: the detection rate of pathogenic CNVs was 14.4%. A non-random involvement of several chromosomal regions was observed. Some of the microimbalances recurrently involved regions (1q21.1, 2q23.1, 2q32q33, 7p13, 17p13.3, 17p11.2, 17q21.31) corresponding to known or novel syndromes. For all the pathogenic CNVs, further cases are needed to allow more accurate genotype-phenotype correlations underscoring the importance of databases to group patients with similar molecular data. (C) 2009 Elsevier Masson SAS. All rights reserved.

引用

页码：66 / 75

页数：10

共 67 条

[1] Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features
Aradhya, Swaroop
Manning, Melanie A.
Splendore, Alessandra
Cherry, Athena M.
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (13) : 1431 - 1441
[2] Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2
Ballif, Blake C.
Hornor, Sara A.
Jenkins, Elizabeth
Madan-Khetarpal, Suneeta
Surti, Urvashi
Jackson, Kelly E.
Asamoah, Alexander
Brock, Pamela L.
Gowans, Gordon C.
Conway, Robert L.
Graham, John M., Jr.
Medne, Livija
Zackai, Elaine H.
Shaikh, Tamim H.
Geoghegan, Joel
Selzer, Rebecca R.
Eis, Peggy S.
Bejjani, Bassem A.
Shaffer, Lisa G.
[J]. NATURE GENETICS, 2007, 39 (09) : 1071 - 1073
[3] Detection of low-level mosaicism by array CGH in routine diagnostic specimens
Balliff, Blake C.
Rorem, Emily A.
Sundin, Kyle
Lincicum, Matt
Gaskin, Shannon
Coppinger, Justine
Kashork, Catherine D.
Shaffer, Lisa G.
Bejjani, Bassem A.
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (24) : 2757 - 2767
[4] MEF2C, a transcription factor that facilitates learning and memory by negative regulation of synapse numbers and function
Barbosa, Ana C.
Kim, Mi-Sung
Ertunc, Mert
Adachi, Megumi
Nelson, Erika D.
McAnally, John
Richardson, James A.
Kavalali, Ege T.
Monteggia, Lisa M.
Bassel-Duby, Rhonda
Olson, Eric N.
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2008, 105 (27) : 9391 - 9396
[5] MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly
Bendavid, Claude
Dubourg, Christele
Pasquier, Laurent
Gicquel, Isabelle
Le Gallou, Simon
Mottier, Stephanie
Durou, Marie-Renee
Henry, Catherine
Odent, Sylvie
David, Veronique
[J]. HUMAN MUTATION, 2007, 28 (12) : 1189 - 1197
[6] Berends MJW, 2001, GENET COUNSEL, V12, P23
[7] The Greig cephalopolysyndactyly syndrome
Biesecker L.G.
[J]. Orphanet Journal of Rare Diseases, 3 (1)
[8] A locus for isolated cleft palate, located on human chromosome 2q32
Brewer, CM
Leek, JP
Green, AJ
Holloway, S
Bonthron, DT
Markham, AF
FitzPatrick, DR
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (02) : 387 - 396
[9] Novel transcription factor Satb2 interacts with matrix attachment region DNA elements in a tissue-specific manner and demonstrates cell-type-dependent expression in the developing mouse CNS
Britanova, O
Akopov, S
Lukyanov, S
Gruss, P
Tarabykin, V
[J]. EUROPEAN JOURNAL OF NEUROSCIENCE, 2005, 21 (03) : 658 - 668
[10] Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development
Britanova, Olga
Depew, Michael J.
Schwark, Manuela
Thomas, Bethan L.
Miletich, Isabelle
Sharpe, Paul
Tarabykin, Victor
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 79 (04) : 668 - 678

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