Severe intellectual disability and autistic features associated with microduplication 2q23.1

被引：26

作者：

Chung, Brian H. Y. ^{[1
]}

Mullegama, Sureni ^{[2
]}

Marshall, Christian R. ^{[3
]}

Lionel, Anath C. ^{[3
,4
]}

Weksberg, Rosanna ^{[1
,4
]}

Dupuis, Lucie ^{[1
]}

Brick, Lauren ^{[5
,6
]}

Li, Chumei ^{[5
,6
]}

Scherer, Stephen W. ^{[3
,4
]}

Aradhya, Swaroop ^{[7
]}

Stavropoulos, D. James ^{[8
,9
]}

Elsea, Sarah H. ^{[2
,10
]}

Mendoza-Londono, Roberto ^{[1
]}

机构：

[1] Hosp Sick Children, Div Clin & Metab Genet, Dept Pediat, Toronto, ON M5G 1X8, Canada

[2] Virginia Commonwealth Univ, Dept Human & Mol Genet, Sch Med, Richmond, VA USA

[3] Hosp Sick Children, Ctr Appl Genom, Toronto, ON M5G 1X8, Canada

[4] Univ Toronto, McLaughlin Ctr Mol Med, Dept Mol Genet, Toronto, ON M5G 1X8, Canada

[5] McMaster Univ, Med Ctr, Dept Pediat, Clin Genet Program, Hamilton, ON, Canada

[6] McMaster Childrens Hosp, Hamilton, ON, Canada

[7] GeneDx, Gaithersburg, MD USA

[8] Hosp Sick Children, Dept Pediat Lab Med, Cytogenet Lab, Toronto, ON M5G 1X8, Canada

[9] Univ Toronto, Dept Lab Med & Pathol, Toronto, ON M5G 1X8, Canada

[10] Virginia Commonwealth Univ, Dept Pediat, Sch Med, Richmond, VA USA

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2012年 / 20卷 / 04期

基金：

加拿大创新基金会;

关键词：

2q23.1; microduplication; MBD5; gene; CGH microarray; autism spectrum disorder; COPY-NUMBER VARIATIONS; COMPARATIVE GENOMIC HYBRIDIZATION; MENTAL-RETARDATION; DEVELOPMENTAL DELAY; WIDE ASSOCIATION; MICRODELETION; DUPLICATION; PHENOTYPE; REGION; GENE;

D O I：

10.1038/ejhg.2011.199

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：

We report on two patients with developmental delay, hypotonia, and autistic features associated with duplications of chromosome region 2q23.1-2q23.2 detected by chromosome microarray analysis. The duplications include one OMIM Morbid Map gene, MBD5, as well as seven known RefSeq genes (ACVR2A, ORC4L, EPC2, KIF5C, MIR1978, LYPD6B, and LYPD6). MBD5 lies in the minimum area of overlap of the 2q23.1 microdeletion syndrome. This report provides the first detailed clinical examination of two individuals with a duplication of this region and suggests that brain development and cognitive function may be affected by an increased dosage of the genes involved. European Journal of Human Genetics (2012) 20, 398-403; doi: 10.1038/ejhg.2011.199; published online 16 November 2011

引用

页码：398 / 403

页数：6

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