CTNND2 deletion and intellectual disability

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

Research output: Contribution to journalArticlepeer-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 languageEnglish
Pages (from-to)146-149
Number of pages4
JournalGene
Volume565
Issue number1
DOIs
Publication statusPublished - Jul 1 2015

Keywords

  • CNV
  • CTNND2
  • Deletion
  • Disability
  • Intellectual

ASJC Scopus subject areas

  • Genetics

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