RBPJ is disrupted in a case of proximal 4p deletion syndrome with epilepsy

Tojo Nakayama, Hirotomo Saitsu, Wakaba Endo, Atsuo Kikuchi, Mitsugu Uematsu, Kazuhiro Haginoya, Naomi Hino-fukuyo, Tomoko Kobayashi, Masaki Iwasaki, Teiji Tominaga, Shigeo Kure, Naomichi Matsumoto

Research output: Contribution to journalArticlepeer-review

6 Citations (Scopus)


Proximal 4p deletion syndrome is characterized clinically by mental retardation, minor dysmorphic facial features, and is occasionally complicated with epilepsy. More than 20 cases of proximal 4p deletion syndrome have been reported, but the causative gene(s) remain elusive. We describe here a 2-year-old female patient with a common manifestation of proximal 4p deletion syndrome and infantile epileptic encephalopathy possessing a de novo balanced translocation t(4;13)(p15.2;q12.13). The patient was diagnosed as infantile spasms at 9. months of age. She presented with dysmorphic facial features and global developmental delay, compatible with proximal 4p deletion syndrome. Using fluorescence in situ hybridization, we determined the translocation breakpoint at 4p15.2 to be within. RBPJ. RBPJ is a transcription factor in the Notch/RBPJ signaling pathway, playing a crucial role in the developing human brain, and particularly telencephalon development. Our findings, combined with those of previous studies, strongly suggest that RBPJ is causative for proximal 4p deletion syndrome and epilepsy in this case.

Original languageEnglish
Pages (from-to)532-536
Number of pages5
JournalBrain and Development
Issue number6
Publication statusPublished - 2014 Jun


  • Balanced translocation
  • Infantile spasms
  • Proximal 4p deletion syndrome
  • RBPJ


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