Partial duplications of the ATRX gene cause the ATR-X syndrome

被引：29

作者：

Thienpont, Bernard

de Ravel, Thomy

Van Esch, Hilde

Van Schoubroeck, Dominique

Moerman, Philippe

Vermeesch, Joris Robert

Fryns, Jean-Pierre

Froyen, Guy

Lacoste, Caroline

Badens, Catherine

Devriendt, Koen

机构：

[1] Catholic Univ Louvain, Ctr Human Genet, B-3000 Louvain, Belgium

[2] Katholieke Univ Leuven Hosp, Dept Pathol, Louvain, Belgium

[3] Katholieke Univ Leuven VIB, Ctr Human Genet, Human Genome Lab, Louvain, Belgium

[4] Hop Enfants La Timone, Dept Med Genet, Genet Mol Lab, Marseille, France

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2007年 / 15卷 / 10期

关键词：

ATRX; intragenic duplication; mutation; array-CGH;

D O I：

10.1038/sj.ejhg.5201878

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

ATR-X syndrome is a rare syndromic X-linked mental retardation disorder. We report that some of the patients suspected of ATR-X carry large intragenic duplications in the ATRX gene, leading to an absence of ATRX mRNA and of the protein. These findings underscore the need for including quantitative analyses to mutation analysis of the ATRX gene.

引用

页码：1094 / 1097

页数：4

共 15 条

[1] Mutation in the 5′ alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome [J].

Abidi, FE ;

Cardoso, C ;

Lossi, AM ;

Lowry, RB ;

Depetris, D ;

Mattéi, MG ;

Lubs, HA ;

Stevenson, RE ;

Fontes, M ;

Chudley, AE ;

Schwartz, CE .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2005, 13 (02) :176-183

[2]

ALLEN RC, 1992, AM J HUM GENET, V51, P1229

[3] X chromosome array-CGH for the identification of novel X-linked mental retardation genes [J].

Bauters, M ;

Van Esch, H ;

Marynen, P ;

Froyen, G .

EUROPEAN JOURNAL OF MEDICAL GENETICS, 2005, 48 (03) :263-275

[4]

Devriendt K, 1997, AM J HUM GENET, V60, P581

[5] Gross genomic rearrangements involving deletions in the CFTR gene:: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms [J].

Férec, C ;

Casals, T ;

Chuzhanova, N ;

Macek, M ;

Bienvenu, T ;

Holubova, A ;

King, C ;

McDevitt, T ;

Castellani, C ;

Farrell, PM ;

Sheridan, M ;

Pantaleo, SJ ;

Loumi, O ;

Messaoud, T ;

Cuppens, H ;

Torricelli, F ;

Cutting, GR ;

Williamson, R ;

Ramos, MJA ;

Pignatti, PF ;

Raguénès, O ;

Cooper, DN ;

Audrézet, MP ;

Chen, JM .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2006, 14 (05) :567-576

[6] Alpha thalassaemia-mental retardation, X linked [J].

Gibbons, Richard .

ORPHANET JOURNAL OF RARE DISEASES, 2006, 1 (1)

[7] Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations [J].

Kozlowski, Piotr ;

Roberts, Penelope ;

Dabora, Sandra ;

Franz, David ;

Bissler, John ;

Northrup, Hope ;

Au, Kit Sing ;

Lazarus, Ross ;

Domanska-Pakiela, Dorota ;

Kotulska, Katarzyna ;

Jozwiak, Sergiusz ;

Kwiatkowski, David J. .

HUMAN GENETICS, 2007, 121 (3-4) :389-400

[8] Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes [J].

McDowell, TL ;

Gibbons, RJ ;

Sutherland, H ;

O'Rourke, DM ;

Bickmore, WA ;

Pombo, A ;

Turley, H ;

Gatter, K ;

Picketts, DJ ;

Buckle, VJ ;

Chapman, L ;

Rhodes, D ;

Higgs, DR .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1999, 96 (24) :13983-13988

[9] Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports [J].

Menten, B. ;

Maas, N. ;

Thienpont, B. ;

Buysse, K. ;

Vandesompele, J. ;

Melotte, C. ;

de Ravel, T. ;

Van Vooren, S. ;

Balikova, I. ;

Backx, L. ;

Janssens, S. ;

De Paepe, A. ;

De Moor, B. ;

Moreau, Y. ;

Marynen, P. ;

Fryns, J-P ;

Mortier, G. ;

Devriendt, K. ;

Speleman, F. ;

Vermeesch, J. R. .

JOURNAL OF MEDICAL GENETICS, 2006, 43 (08) :625-633

[10] Molecular cytogenetic characterization of a constitutional complex intrachromosomal 4q rearrangement in a patient with multiple congenital anomalies [J].

Thienpont, B. ;

Gewillig, M. ;

Fryns, J. -P. ;

Devriendt, K. ;

Vermeesch, J. .

CYTOGENETIC AND GENOME RESEARCH, 2006, 114 (3-4) :338-341

← 1 2 →