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

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AU - Belcaro, Chiara

AU - Dipresa, Savina

AU - Morini, Giovanna

AU - Pecile, Vanna

AU - Skabar, Aldo

AU - Fabretto, Antonella

PY - 2015/7/1

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KW - Deletion

KW - Disability

KW - Intellectual

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CTNND2 deletion and intellectual disability

Abstract

Keywords

ASJC Scopus subject areas

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