title: De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity.
abstract: 17p13.1 Deletion encompassing TP53 has been described as a syndrome characterized by intellectual disability and dysmorphic features. Only one case with a 17p13.1 duplication encompassing TP53 has been reported in a patient with intellectual disability, seizures, obesity, and diabetes mellitus. Here, we present a patient with a 17p13.1 duplication who exhibited obesity and intellectual disability, similar to the previous report. The 9-year-old proposita was referred for the evaluation of intellectual disability and obesity. She also exhibited insulin resistance and liver dysfunction. She had wide palpebral fissures, upturned nostrils, a long mandible, short and slender fingers, and skin hyperpigmentation. Array comparative genomic hybridization (array CGH) detected a 3.2 Mb duplication of 17p13.1-p13.2 encompassing TP53, FXR2, NLGN2, and SLC2A4, which encodes the insulin-responsive glucose transporter 4 (GLUT4) associated with insulin-stimulated glucose uptake in adipocytes and muscle. We suggest that 17p13.1 duplication may represent a clinically recognizable condition characterized partially by a characteristic facial phenotype, developmental delay, and obesity.
authors.affiliation: Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Kuroda
authors.forename: Ikuko
authors.initials: I
authors.lastname: Ohashi
authors.forename: Makiko
authors.initials: M
authors.lastname: Tominaga
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Saito
authors.forename: Jun-Ichi
authors.initials: J
authors.lastname: Nagai
authors.forename: Kazumi
authors.initials: K
authors.lastname: Ida
authors.forename: Takuya
authors.initials: T
authors.lastname: Naruto
authors.forename: Mitsuo
authors.initials: M
authors.lastname: Masuno
authors.forename: Kenji
authors.initials: K
authors.lastname: Kurosawa
mesh_terms: D015816:Cell Adhesion Molecules, Neuronal / Q000235:genetics; D002648:Child; D058674:Chromosome Duplication / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000235:genetics; D019066:Facies; D005260:Female; D051275:Glucose Transporter Type 4 / Q000235:genetics; D006801:Humans; D007333:Insulin Resistance / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics*; D008107:Liver Diseases; D009419:Nerve Tissue Proteins / Q000235:genetics; D009765:Obesity / Q000235:genetics*; D016601:RNA-Binding Proteins / Q000235:genetics; D016159:Tumor Suppressor Protein p53 / Q000235:genetics
chemical_list: D015816:Cell Adhesion Molecules, Neuronal; C096915:FXR2 protein, human; D051275:Glucose Transporter Type 4; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C495692:SLC2A4 protein, human; C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53; C098003:neuroligin 2
keywords: 17p13.1 duplication; GLUT4; SLC2A4; TP53; obesity