title: Microduplications of 3p26.3p26.2 containing CRBN gene in patients with intellectual disability and behavior abnormalities.
abstract: We report on the clinical data and molecular cytogenetic findings in three unrelated patients presenting with intellectual disability and behavior abnormalities. An overlapping microduplication involving 3p26.2-26.3 was identified in these patients. All three aberrations were confirmed and proven to be parentally inherited. The sizes of the duplications were different, with a common minimal region of 423,754 bp containing two genes - TRNT1 and CRBN. Here, we hypothesize that the copy number gain of CRBN gene might be responsible for developmental delay/intellectual disability.
authors: Victor Babeş National Institute of Pathology, Medical Genetics Laboratory, Bucharest, Romania.
authors: Sorina M
authors: SM
authors: Papuc
authors: Institut fuer Klinische Genetik, Medizinische Fakultaet Carl Gustav Carus, TU Dresden, Dresden, Germany.
authors: Karl
authors: K
authors: Hackmann
authors: Laboratoire de Génétique Médicale, Hôpital Jeanne de Flandre, CHRU de Lille, France.
authors: Joris
authors: J
authors: Andrieux
authors: Service de Génétique Clinique Guy Fontaine, Hôpital Jeanne de Flandre, Lille, France.
authors: Catherine
authors: C
authors: Vincent-Delorme
authors: Victor Babeş National Institute of Pathology, Medical Genetics Laboratory, Bucharest, Romania; Prof. Dr. Alex. Obregia Clinical Hospital of Psychiatry, Bucharest, Romania.
authors: Magdalena
authors: M
authors: Budişteanu
authors: Victor Babeş National Institute of Pathology, Medical Genetics Laboratory, Bucharest, Romania.
authors: Aurora
authors: A
authors: Arghir
authors: Institut fuer Klinische Genetik, Medizinische Fakultaet Carl Gustav Carus, TU Dresden, Dresden, Germany.
authors: Evelin
authors: E
authors: Schrock
authors: Victor Babeş National Institute of Pathology, Medical Genetics Laboratory, Bucharest, Romania. Electronic address: andreea.cunita@ivb.ro.
authors: Andreea C
authors: AC
authors: Ţuţulan-Cuniţă
authors: Institut fuer Klinische Genetik, Medizinische Fakultaet Carl Gustav Carus, TU Dresden, Dresden, Germany.
authors: Nataliya
authors: N
authors: Di Donato
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D002648:Child; D002653:Child Behavior Disorders / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D058674:Chromosome Duplication; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D056915:DNA Copy Number Variations; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D018628:Gene Dosage; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D010447:Peptide Hydrolases / Q000235:genetics*; D012316:RNA Nucleotidyltransferases / Q000235:genetics; D044767:Ubiquitin-Protein Ligases
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C502543:CRBN protein, human; D044767:Ubiquitin-Protein Ligases; D012316:RNA Nucleotidyltransferases; C023198:tRNA nucleotidyltransferase; D010447:Peptide Hydrolases
keywords: 3p26.3p26.2 duplication; Behavior abnormalities; CRBN gene; Intellectual disability