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

Brian H.Y. Chung; Sureni Mullegama; Christian R. Marshall; Anath C. Lionel; Rosanna Weksberg; Lucie Dupuis; Lauren Brick; Chumei Li; Stephen W. Scherer; Swaroop Aradhya; D. James Stavropoulos; Sarah H. Elsea; Roberto Mendoza-Londono

doi:10.1038/ejhg.2011.199

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

Brian H.Y. Chung
, Sureni Mullegama
, Christian R. Marshall
, Anath C. Lionel
, Rosanna Weksberg
, Lucie Dupuis
, Lauren Brick
, Chumei Li
, Stephen W. Scherer
, Swaroop Aradhya
, D. James Stavropoulos
, Sarah H. Elsea
, Roberto Mendoza-Londono

Research output: Contribution to journal › Review article › peer-review

33 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	398-403
Number of pages	6
Journal	European Journal of Human Genetics
Volume	20
Issue number	4
DOIs	https://doi.org/10.1038/ejhg.2011.199
State	Published - Apr 2012
Externally published	Yes

Keywords

2q23.1 microduplication
autism spectrum disorder
CGH microarray
MBD5 gene

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Access to Document

10.1038/ejhg.2011.199

Cite this

Chung, B. H. Y., Mullegama, S., Marshall, C. R., Lionel, A. C., Weksberg, R., Dupuis, L., Brick, L., Li, C., Scherer, S. W., Aradhya, S., Stavropoulos, D. J., Elsea, S. H., & Mendoza-Londono, R. (2012). Severe intellectual disability and autistic features associated with microduplication 2q23.1. European Journal of Human Genetics, 20(4), 398-403. https://doi.org/10.1038/ejhg.2011.199

Chung, BHY, Mullegama, S, Marshall, CR, Lionel, AC, Weksberg, R, Dupuis, L, Brick, L, Li, C, Scherer, SW, Aradhya, S, Stavropoulos, DJ, Elsea, SH & Mendoza-Londono, R 2012, 'Severe intellectual disability and autistic features associated with microduplication 2q23.1', European Journal of Human Genetics, vol. 20, no. 4, pp. 398-403. https://doi.org/10.1038/ejhg.2011.199

@article{2824a06b6a4d4b51a94e7b17be74d66e,

title = "Severe intellectual disability and autistic features associated with microduplication 2q23.1",

abstract = "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.",

keywords = "2q23.1 microduplication, autism spectrum disorder, CGH microarray, MBD5 gene",

author = "Chung, \{Brian H.Y.\} and Sureni Mullegama and Marshall, \{Christian R.\} and Lionel, \{Anath C.\} and Rosanna Weksberg and Lucie Dupuis and Lauren Brick and Chumei Li and Scherer, \{Stephen W.\} and Swaroop Aradhya and Stavropoulos, \{D. James\} and Elsea, \{Sarah H.\} and Roberto Mendoza-Londono",

year = "2012",

month = apr,

doi = "10.1038/ejhg.2011.199",

language = "English (US)",

volume = "20",

pages = "398--403",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer Nature",

number = "4",

}

TY - JOUR

T1 - Severe intellectual disability and autistic features associated with microduplication 2q23.1

AU - Chung, Brian H.Y.

AU - Mullegama, Sureni

AU - Marshall, Christian R.

AU - Lionel, Anath C.

AU - Weksberg, Rosanna

AU - Dupuis, Lucie

AU - Brick, Lauren

AU - Li, Chumei

AU - Scherer, Stephen W.

AU - Aradhya, Swaroop

AU - Stavropoulos, D. James

AU - Elsea, Sarah H.

AU - Mendoza-Londono, Roberto

PY - 2012/4

Y1 - 2012/4

N2 - 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.

AB - 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.

KW - 2q23.1 microduplication

KW - autism spectrum disorder

KW - CGH microarray

KW - MBD5 gene

UR - https://www.scopus.com/pages/publications/84858337277

UR - https://www.scopus.com/pages/publications/84858337277#tab=citedBy

U2 - 10.1038/ejhg.2011.199

DO - 10.1038/ejhg.2011.199

M3 - Review article

C2 - 22085900

AN - SCOPUS:84858337277

SN - 1018-4813

VL - 20

SP - 398

EP - 403

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 4

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this