CTNND2 deletion and intellectual disability

Chiara Belcaro; Savina Dipresa; Giovanna Morini; Vanna Pecile; Aldo Skabar; Antonella Fabretto

doi:10.1016/j.gene.2015.03.054

CTNND2 deletion and intellectual disability

Chiara Belcaro, Savina Dipresa, Giovanna Morini, Vanna Pecile, Aldo Skabar, Antonella Fabretto

IRCCS pediatrico Burlo Garofolo

Research output: Contribution to journal › Article › peer-review

Abstract

Neurodevelopmental disorders are a group of diseases characterized by either structural or functional alterations. The clinical spectrum can vary from isolated intellectual disability to more complex syndromes. Molecular karyotyping can explain 14%-18% of cases due to the presence of large pathogenic CNVs. Moreover, small CNVs involving single genes might result in a monogenic disease. In this article we report two cases of intragenic CTNND2 deletion, detected by molecular karyotyping, in patients with isolated intellectual disability.

Original language	English
Pages (from-to)	146-149
Number of pages	4
Journal	Gene
Volume	565
Issue number	1
DOIs	https://doi.org/10.1016/j.gene.2015.03.054
Publication status	Published - Jul 1 2015

Keywords

CNV
CTNND2
Deletion
Disability
Intellectual

ASJC Scopus subject areas

Genetics

Access to Document

10.1016/j.gene.2015.03.054

Cite this

@article{a831ffffabac433b99735af36aa3edbe,

title = "CTNND2 deletion and intellectual disability",

abstract = "Neurodevelopmental disorders are a group of diseases characterized by either structural or functional alterations. The clinical spectrum can vary from isolated intellectual disability to more complex syndromes. Molecular karyotyping can explain 14%-18% of cases due to the presence of large pathogenic CNVs. Moreover, small CNVs involving single genes might result in a monogenic disease. In this article we report two cases of intragenic CTNND2 deletion, detected by molecular karyotyping, in patients with isolated intellectual disability.",

keywords = "CNV, CTNND2, Deletion, Disability, Intellectual",

author = "Chiara Belcaro and Savina Dipresa and Giovanna Morini and Vanna Pecile and Aldo Skabar and Antonella Fabretto",

year = "2015",

month = jul,

day = "1",

doi = "10.1016/j.gene.2015.03.054",

language = "English",

volume = "565",

pages = "146--149",

journal = "Gene",

issn = "0378-1119",

publisher = "Elsevier B.V.",

number = "1",

}

TY - JOUR

T1 - CTNND2 deletion and intellectual disability

AU - Belcaro, Chiara

AU - Dipresa, Savina

AU - Morini, Giovanna

AU - Pecile, Vanna

AU - Skabar, Aldo

AU - Fabretto, Antonella

PY - 2015/7/1

Y1 - 2015/7/1

N2 - Neurodevelopmental disorders are a group of diseases characterized by either structural or functional alterations. The clinical spectrum can vary from isolated intellectual disability to more complex syndromes. Molecular karyotyping can explain 14%-18% of cases due to the presence of large pathogenic CNVs. Moreover, small CNVs involving single genes might result in a monogenic disease. In this article we report two cases of intragenic CTNND2 deletion, detected by molecular karyotyping, in patients with isolated intellectual disability.

AB - Neurodevelopmental disorders are a group of diseases characterized by either structural or functional alterations. The clinical spectrum can vary from isolated intellectual disability to more complex syndromes. Molecular karyotyping can explain 14%-18% of cases due to the presence of large pathogenic CNVs. Moreover, small CNVs involving single genes might result in a monogenic disease. In this article we report two cases of intragenic CTNND2 deletion, detected by molecular karyotyping, in patients with isolated intellectual disability.

KW - CNV

KW - CTNND2

KW - Deletion

KW - Disability

KW - Intellectual

UR - http://www.scopus.com/inward/record.url?scp=84928421492&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84928421492&partnerID=8YFLogxK

U2 - 10.1016/j.gene.2015.03.054

DO - 10.1016/j.gene.2015.03.054

M3 - Article

C2 - 25839933

AN - SCOPUS:84928421492

VL - 565

SP - 146

EP - 149

JO - Gene

JF - Gene

SN - 0378-1119

IS - 1

ER -

CTNND2 deletion and intellectual disability

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this