RORB gene and 9q21.13 microdeletion: Report on a patient with epilepsy and mild intellectual disability

Maria Giuseppina Baglietto, Gianluca Caridi, Giorgio Gimelli, Margherita Mancardi, Giulia Prato, Patrizia Ronchetto, Cristina Cuoco, Elisa Tassano

Research output: Contribution to journalArticlepeer-review


Copy number variants represent an important cause of neurodevelopmental disorders including epilepsy, which is genetically determined in 40% of cases. Epilepsy is caused by chromosomal imbalances or mutations in genes encoding subunits of neuronal voltage- or ligand-gated ion channels or proteins related to neuronal maturation and migration during embryonic development. Here, we report on a girl with mild intellectual disability and idiopathic partial epilepsy. Array-CGH analysis showed a 1.040 Mb de novo interstitial deletion at 9q21.13 band encompassing only four genes, namely RORB, TRPM6, NMRK1, OSTF1, two open reading frames (C9orf40, C9orf41), and a microRNA (MIR548H3). RORB encodes a nuclear receptor highly expressed in the retina, cortex, and thalamus. We hypothesize its role in producing the phenotype of our patient and compare this case with other ones previously reported in the literature to better identify a genotype-phenotype correlation.

Original languageEnglish
Pages (from-to)44-46
Number of pages3
JournalEuropean Journal of Medical Genetics
Issue number1
Publication statusPublished - Jan 2014


  • 9q21.13 Microdeletion
  • Array-CGH
  • Copy number variants
  • Epilepsy
  • Mild intellectual disability
  • RORB gene

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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