7q35 microdeletion and 15q13.3 and xp22.33 microduplications in a patient with severe myoclonic epilepsy, microcephaly, dysmorphisms, severe psychomotor delay and intellectual disability

Francesco Paduano, Emma Colao, Sara Loddo, Valeria Orlando, Francesco Trapasso, Antonio Novelli, Nicola Perrotti, Rodolfo Iuliano

Research output: Contribution to journalArticlepeer-review

Abstract

Copy number variations (CNVs) play a key role in the pathogenesis of several diseases, including a wide range of neurodevelopmental disorders. Here, we describe the detection of three CNVs simultaneously in a female patient with evidence of severe myoclonic epilepsy, microcephaly, hypertelorism, dimorphisms as well as severe psychomotor delay and intellectual disability. Array-CGH analysis revealed a ∼240 kb microdeletion at the 7q35 inherited from her father, a ∼538 kb microduplication at the 15q13.3 region and a ∼178 kb microduplication at Xp22.33 region, both transmitted from her mother. The microdeletion in 7q35 was included within an intragenic region of the contactin associated protein-like 2 (CNTNAP2) gene, whereas the microduplications at 15q13.3 and Xp22.33 involved the cholinergic receptor nicotinic alpha 7 subunit (CHRNA7) and the cytokine receptor-like factor 2 (CRLF2) genes, respectively. Here, we describe a female patient harbouring three CNVs whose additive contribution could be responsible for her clinical phenotypes.

Original languageEnglish
Article number525
JournalGenes
Volume11
Issue number5
DOIs
Publication statusPublished - May 2020

Keywords

  • CHRNA7
  • CNTNAP2
  • Copy number variants (CNVs)
  • CRLF2
  • Microdeletion
  • Microduplication
  • Neurodevelopmental disorders

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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