De novo duplication of 17p13.1–p13.2 in a patient with intellectual disability and obesity. Issue 6 (25th March 2014)

• Record Type: Journal Article
• Authors: Kuroda, Yukiko; Ohashi, Ikuko; Tominaga, Makiko; Saito, Toshiyuki; Nagai, Jun‐ichi; Ida, Kazumi; Naruto, Takuya; Masuno, Mitsuo; Kurosawa, Kenji
• Is Part Of: American journal of medical genetics. Volume 164:Issue 6(2014.)
• Page Start: 1550
• Page End: 1554
• Publication Date: 2014-03-25
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36477
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga36477-sec-0001" sec-type="section"> <p>17p13.1 Deletion encompassing <italic>TP53</italic> has been described as a syndrome characterized by intellectual disability and dysmorphic features. Only one case with a 17p13.1 duplication encompassing <italic>TP53</italic> 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 <italic>TP53</italic>, <italic>FXR2</italic>, <italic>NLGN2</italic>, and <italic>SLC2A4</italic>, 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. © 2014 Wiley Periodicals, Inc.</p> </sec> </abstract>