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De novo duplication of 17p13.1–p13.2 in a patient with intellectual disability and obesity
Author(s) -
Kuroda Yukiko,
Ohashi Ikuko,
Tominaga Makiko,
Saito Toshiyuki,
Nagai Junichi,
Ida Kazumi,
Naruto Takuya,
Masuno Mitsuo,
Kurosawa Kenji
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36477
Subject(s) - gene duplication , intellectual disability , glut4 , obesity , medicine , comparative genomic hybridization , insulin resistance , genetics , endocrinology , biology , anatomy , gene , chromosome
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. © 2014 Wiley Periodicals, Inc.