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 [J].