Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA

Toshiyuki Yamamoto, Maria Antonietta Mencarelli, Chiara Di Marco, Mafalda Mucciolo, Marina Vascotto, Paolo Balestri, Marion Gérard, Michèle Mathieu-Dramard, Joris Andrieux, Martijn Breuning, Mariëtte J.V. Hoffer, Claudia A.L. Ruivenkamp, Shino Shimada, Noriko Sangu, Keiko Shimojima, Ryoji Umezu, Hiroshi Kawame, Mari Matsuo, Kayoko Saito, Alessandra RenieriFrancesca Mari

Research output: Contribution to journalArticlepeer-review

8 Citations (Scopus)

Abstract

Microdeletions in the 15q22 region have not been well documented. We collected genotype and phenotype data from five patients with microdeletions involving 15q22.2, which were between 0.7Mb and 6.5Mb in size; two were of de novo origin and one was of familial origin. Intellectual disability and epilepsy are frequently observed in patients with 15q22.2 deletions. Genotype-phenotype correlation analysis narrowed the critical region for such neurologic symptoms to a genomic region of 654Kb including the NMDA receptor-regulated 2 gene (NARG2) and the PAR-related orphan receptor A gene (RORA), either of which may be responsible for neurological symptoms commonly observed in patients with deletions in this region. The neighboring regions, including the forkhead box B1 gene (FOXB1), may also be related to the additional neurological features observed in the patients with larger deletions.

Original languageEnglish
Pages (from-to)163-168
Number of pages6
JournalEuropean Journal of Medical Genetics
Volume57
Issue number4
DOIs
Publication statusPublished - 2014 Mar
Externally publishedYes

Keywords

  • 15q22.2
  • Epilepsy
  • Forkhead box B1 (FOXB1)
  • Intellectual disability
  • Microdeletion
  • NMDA receptor-regulated 2 (NARG2)
  • RAR-related orphan receptor A (RORA)

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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