Interstitial 12p13.1 Deletion Involving GRIN2B in Three Patients With Intellectual Disability

被引：17

作者：

Dimassi, Sarra ^{[1
]}

Andrieux, Joris ^{[2
]}

Labalme, Audrey ^{[1
]}

Lesca, Gaetan ^{[1
,3
]}

Cordier, Marie-Pierre ^{[1
]}

Boute, Odile ^{[4
]}

Neut, Dorothee

Edery, Patrick ^{[1
,3
]}

Sanlaville, Damien ^{[1
,3
]}

Schluth-Bolard, Caroline ^{[1
,3
]}

机构：

[1] Hosp Civils Lyon, Serv Genet, Lab Cytogenet Constitut, Ctr Biol & Pathol Est, Lyon, France

[2] Hop Jeanne de Flandre, Lab Genet Med, CHRU Lille, Lille, France

[3] Univ Lyon 1, CNRL, INSERM U1028, CNRS UMR5292,Equipe TIGER, F-69365 Lyon, France

[4] Hop Jeanne de Flandre, Serv Genet Clin, CHRU Lille, Lille, France

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2013年 / 161卷 / 10期

关键词：

aCGH; 12p13; 1; deletion; GRIN2B; intellectual disability; NMDA receptor; AUTISM SPECTRUM DISORDERS; DE-NOVO; NMDA RECEPTORS; SUBUNIT; MEMORY; PERFORMANCE; EXPRESSION; MUTATIONS; DIVERSITY;

D O I：

10.1002/ajmg.a.36079

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on three patients presenting moderate intellectual disability, delayed language acquisition, and mild facial dysmorphia. Array-CGH studies revealed overlapping interstitial 12p13.1 microdeletions encompassing all or part of GRIN2B. GRIN2B encodes the NR2B subunit of the N-methyl-D-aspartate (NMDA) receptor. This receptor is a heteromeric glutamate-activated ion channel, present throughout the central nervous system. It plays a critical role in corticogenesis, neuronal migration, and synaptogenesis during brain development. GRIN2B alterations, including mutation and gene disruption by apparently balanced chromosomal rearrangements, have been described in patients with intellectual disability and autism spectrum disorder. We report here on the first cases of GRIN2B deletion, enlarging the spectrum of GRIN2B abnormalities. Our findings confirm the involvement of this gene in neurodevelopmental disorders. (c) 2013 Wiley Periodicals, Inc.

引用

页码：2564 / 2569

页数：6

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