A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae

被引：39

作者：

Shimojima, Keiko ^{[1
]}

Inoue, Takehiko ^{[2
]}

Fujii, Yuji ^{[2
]}

Ohno, Kousaku ^{[2
]}

Yamamoto, Toshiyuki ^{[1
]}

机构：

[1] Tokyo Womens Med Univ, Int Res & Educ Inst Integrated Med Sci, Shinjuku Ward, Tokyo 1628666, Japan

[2] Tottori Univ, Fac Med, Inst Neurol Sci, Div Child Neurol, Yonago, Tottori 683, Japan

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2009年 / 52卷 / 06期

关键词：

Interstitial deletion of 16p11.2; Array comparative genomic hybridization (CGH); Developmental delay; Mental retardation; Autism spectrum disorder (ASD); Hemivertebra; AUTISM; MUTATION; DISORDERS; TBX6;

D O I：

10.1016/j.ejmg.2009.09.007

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Through several large-scale screening studies for autism spectrum disorders (ASD), a common 593-kb interstitial deletion of 16p11.2 has been identified as one of the most common genomic disorders associated with ASD. In this study, a familial occurrence of the 16p11.2 deletion was identified in association with hemivertebrae. The proband was a 3-year-old boy who showed developmental delay, displayed hyperactive but not autistic behavior, and had hemivertebrae, rib anomalies, and inguinal hernia. Familial investigation revealed that his mother shared the same deletion. Under the hypothesis of the existence of an unmasked mutation in the deletion region, we analyzed the sequence of the T-box 6 gene (TBX6) included in the deletion region, but did not detect any mutation. This suggests that haploinsufficiency of TBX6 can lead to vertebral malformation in low penetrance. Crown Copyright (C) 2009 Published by Elsevier Masson SAS. All rights reserved.

引用

页码：433 / 435

页数：3

共 16 条

[1] 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

[2] Three neural tubes in mouse embryos with mutations in the T-box gene Tbx6 [J].

Chapman, DL ;

Papaioannou, VE .

NATURE, 1998, 391 (6668) :695-697

[3]

DAIROKU H, 2004, RES REPORT NATL I SP, V7, P19

[4] A missense T(Brachyury) mutation contributes to vertebral malformations [J].

Ghebranious, Nader ;

Blank, Robert D. ;

Raggio, Cathleen L. ;

Staubli, Justin ;

McPherson, Elizabeth ;

Ivacic, Lynn ;

Rasmussen, Kristen ;

Jacobsen, F. Stig ;

Faciszewski, Thomas ;

Burmester, James K. ;

Pauli, Richard M. ;

Boachie-Adjei, Oheneba ;

Glurich, Ingrid ;

Giampietro, Philip F. .

JOURNAL OF BONE AND MINERAL RESEARCH, 2008, 23 (10) :1576-1583

[5] Progress in the Understanding of the Genetic Etiology of Vertebral Segmentation Disorders in Humans [J].

Giampietro, Philip F. ;

Dunwoodie, Sally L. ;

Kusumi, Kenro ;

Pourquie, Olivier ;

Tassy, Olivier ;

Offiah, Amaka C. ;

Cornier, Alberto S. ;

Alman, Benjamin A. ;

Blank, Robert D. ;

Raggio, Cathleen L. ;

Glurich, Ingrid ;

Turnpenny, Peter D. .

YEAR IN HUMAN AND MEDICAL GENETICS 2009, 2009, 1151 :38-67

[6] Autism genome-wide copy number variation reveals ubiquitin and neuronal genes [J].

Glessner, Joseph T. ;

Wang, Kai ;

Cai, Guiqing ;

Korvatska, Olena ;

Kim, Cecilia E. ;

Wood, Shawn ;

Zhang, Haitao ;

Estes, Annette ;

Brune, Camille W. ;

Bradfield, Jonathan P. ;

Imielinski, Marcin ;

Frackelton, Edward C. ;

Reichert, Jennifer ;

Crawford, Emily L. ;

Munson, Jeffrey ;

Sleiman, Patrick M. A. ;

Chiavacci, Rosetta ;

Annaiah, Kiran ;

Thomas, Kelly ;

Hou, Cuiping ;

Glaberson, Wendy ;

Flory, James ;

Otieno, Frederick ;

Garris, Maria ;

Soorya, Latha ;

Klei, Lambertus ;

Piven, Joseph ;

Meyer, Kacie J. ;

Anagnostou, Evdokia ;

Sakurai, Takeshi ;

Game, Rachel M. ;

Rudd, Danielle S. ;

Zurawiecki, Danielle ;

McDougle, Christopher J. ;

Davis, Lea K. ;

Miller, Judith ;

Posey, David J. ;

Michaels, Shana ;

Kolevzon, Alexander ;

Silverman, Jeremy M. ;

Bernier, Raphael ;

Levy, Susan E. ;

Schultz, Robert T. ;

Dawson, Geraldine ;

Owley, Thomas ;

McMahon, William M. ;

Wassink, Thomas H. ;

Sweeney, John A. ;

Nurnberger, John I., Jr. ;

Coon, Hilary .

NATURE, 2009, 459 (7246) :569-573

[7]

Hernando C, 2002, J Med Genet, V39, pE24, DOI 10.1136/jmg.39.5.e24

[8]

Hokama T, 2005, Asia Pac J Public Health, V17, P19, DOI 10.1177/101053950501700105

[9] Recurrent 16p11.2 microdeletions in autism [J].

Kumar, Ravinesh A. ;

KaraMohamed, Samer ;

Sudi, Jyotsna ;

Conrad, Donald F. ;

Brune, Camille ;

Badner, Judith A. ;

Gilliam, T. Conrad ;

Nowak, Norma J. ;

Cook, Edwin H., Jr. ;

Dobyns, William B. ;

Christian, Susan L. .

HUMAN MOLECULAR GENETICS, 2008, 17 (04) :628-638

[10] Structural variation of chromosomes in autism spectrum disorder [J].

Marshall, Christian R. ;

Noor, Abdul ;

Vincent, John B. ;

Lionel, Anath C. ;

Feuk, Lars ;

Skaug, Jennifer ;

Shago, Mary ;

Moessner, Rainald ;

Pinto, Dalila ;

Ren, Yan ;

Thiruvahindrapduram, Bhoorna ;

Fiebig, Andreas ;

Schreiber, Stefan ;

Friedman, Jan ;

Ketelaars, Cees E. J. ;

Vos, Yvonne J. ;

Ficicioglu, Can ;

Kirkpatrick, Susan ;

Nicolson, Rob ;

Sloman, Leon ;

Surnmers, Anne ;

Gibbons, Clare A. ;

Teebi, Ahmad ;

Chitayat, David ;

Weksberg, Rosanna ;

Thompson, Ann ;

Vardy, Cathy ;

Crosbie, Vicki ;

Luscombe, Sandra ;

Baatjes, Rebecca ;

Zwaigenbaum, Lonnie ;

Roberts, Wendy ;

Fernandez, Bridget ;

Szatmari, Peter ;

Scherer, Stephen W. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (02) :477-488

← 1 2 →