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Brain Dev. 2014 Jun;36(6):532-6. doi: 10.1016/j.braindev.2013.07.009. Epub 2013 Aug 16.

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

Author information

1
Department of Pediatrics, Tohoku University School of Medicine, Aoba-ku, Sendai, Japan. Electronic address: tojo-nakayama@umin.ac.jp.
2
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa-ku, Yokohama, Japan.
3
Department of Pediatrics, Tohoku University School of Medicine, Aoba-ku, Sendai, Japan; Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.
4
Department of Pediatrics, Tohoku University School of Medicine, Aoba-ku, Sendai, Japan.
5
Department of Neurosurgery, Tohoku University School of Medicine, Aoba-ku, Sendai, Japan.

Abstract

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.

KEYWORDS:

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

PMID:
23958593
DOI:
10.1016/j.braindev.2013.07.009
[Indexed for MEDLINE]
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