CTNND2 deletion and intellectual disability

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 pathogeni...

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Bibliographic Details
Published in:Gene 2015-07, Vol.565 (1), p.146-149
Main Authors: Belcaro, Chiara, Dipresa, Savina, Morini, Giovanna, Pecile, Vanna, Skabar, Aldo, Fabretto, Antonella
Format: Article
Language:English
Subjects:
Catenins - genetics
Chromosomes, Human, Pair 5 - genetics
CNV
CTNND2
Deletion
Disability
Gene Deletion
Humans
Intellectual
Intellectual Disability - genetics
Intellectual Disability - pathology
Karyotyping
Male
Oligonucleotide Array Sequence Analysis
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Summary: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. •We performed molecular karyotyping in two patients with intellectual disability.•We found an intragenic deletion in CTNND2.•Patients' phenotype complies with other cases described so far.•CTNND2 deletion is involved in brain function and intellectual disability.
ISSN:0378-1119
1879-0038
DOI:10.1016/j.gene.2015.03.054