title: RBPJ is disrupted in a case of proximal 4p deletion syndrome with epilepsy.
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.
authors: Department of Pediatrics, Tohoku University School of Medicine, Aoba-ku, Sendai, Japan. Electronic address: tojo-nakayama@umin.ac.jp.
authors: Tojo
authors: T
authors: Nakayama
authors: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa-ku, Yokohama, Japan.
authors: Hirotomo
authors: H
authors: Saitsu
authors: Department of Pediatrics, Tohoku University School of Medicine, Aoba-ku, Sendai, Japan; Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.
authors: Wakaba
authors: W
authors: Endo
authors: Department of Pediatrics, Tohoku University School of Medicine, Aoba-ku, Sendai, Japan.
authors: Atsuo
authors: A
authors: Kikuchi
authors: Department of Pediatrics, Tohoku University School of Medicine, Aoba-ku, Sendai, Japan.
authors: Mitsugu
authors: M
authors: Uematsu
authors: Department of Pediatrics, Tohoku University School of Medicine, Aoba-ku, Sendai, Japan; Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.
authors: Kazuhiro
authors: K
authors: Haginoya
authors: Department of Pediatrics, Tohoku University School of Medicine, Aoba-ku, Sendai, Japan.
authors: Naomi
authors: N
authors: Hino-fukuyo
authors: Department of Pediatrics, Tohoku University School of Medicine, Aoba-ku, Sendai, Japan.
authors: Tomoko
authors: T
authors: Kobayashi
authors: Department of Neurosurgery, Tohoku University School of Medicine, Aoba-ku, Sendai, Japan.
authors: Masaki
authors: M
authors: Iwasaki
authors: Department of Neurosurgery, Tohoku University School of Medicine, Aoba-ku, Sendai, Japan.
authors: Teiji
authors: T
authors: Tominaga
authors: Department of Pediatrics, Tohoku University School of Medicine, Aoba-ku, Sendai, Japan.
authors: Shigeo
authors: S
authors: Kure
authors: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa-ku, Yokohama, Japan.
authors: Naomichi
authors: N
authors: Matsumoto
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D004827:Epilepsy / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005260:Female; D006801:Humans; D051819:Immunoglobulin J Recombination Signal Sequence-Binding Protein / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D013036:Spasms, Infantile / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D014178:Translocation, Genetic; D054877:Wolf-Hirschhorn Syndrome / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology
chemical_list: D051819:Immunoglobulin J Recombination Signal Sequence-Binding Protein; C497570:RBPJ protein, human
keywords: Balanced translocation; Infantile spasms; Proximal 4p deletion syndrome; RBPJ