MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions

Arianna Tucci; Claudia Ciaccio; Giulietta Scuvera; Susanna Esposito; Donatella Milani

doi:10.1186/s13039-016-0289-x

MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions

Mol Cytogenet. 2016 Nov 3:9:80. doi: 10.1186/s13039-016-0289-x. eCollection 2016.

Authors

Arianna Tucci¹, Claudia Ciaccio¹, Giulietta Scuvera¹, Susanna Esposito¹, Donatella Milani¹

Affiliation

¹ Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122 Milano, Italy.

Abstract

Background: Deletions in the long arm of chromosome 1 have been described in patients with a phenotype consisting primarily of obesity, intellectual disability and autism-spectrum disorder. The minimal region of overlap comprises two genes: DPYD and MIR137.

Case presentation: We describe a 10-year-old boy with syndromic obesity who carries a novel 1p21.3 deletion overlapping the critical region with the MIR137 gene only.

Conclusions: This study suggests that MIR137 is the mediator of the obesity phenotype of patients carrying 1p21.3 microdeletions.

Keywords: 1p21.3; Array-CGH; Autism spectrum disorder; Genetics; Intellectual disability; MIR137; Obesity.

Publication types

Case Reports